91042 sets of genes co-occuring with biological terms in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
Gene Set |
Description |
a0101
|
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a02
|
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a020101
|
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a0201restricted
|
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a0206
|
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a03
|
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a10
|
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a102
|
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a103
|
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a105a105
|
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a1082g
|
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a108p
|
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a10hoxa10
|
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a11
|
|
a111t
|
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a1166
|
|
a1166c
|
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a1166cat2r1
|
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a1188c
|
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a118g
|
|
a119c
|
|
a12
|
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a1267g
|
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a1298c
|
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a13
|
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a131g
|
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a131tsema3a
|
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a1330v
|
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a1438g
|
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a148g
|
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a1500e
|
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a1555g
|
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a1555g1595
|
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a161t
|
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a163g
|
|
a172
|
|
a1730g
|
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a17893g
|
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a18
|
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a181v
|
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a189
|
|
a18involved
|
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a194t
|
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a1954g
|
|
a19g
|
|
a1a1
|
|
a1a2
|
|
a1a2a3
|
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a1a3
|
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a1abca1
|
|
a1alphalysophosphatidic
|
|
a1at
|
|
a1b8
|
|
a1bg
|
alpha-1-B glycoprotein|The protein encoded by this gene is a plasma glycoprotein of unknown function. The protein shows sequence similarity to the variable regions of some immunoglobulin supergene family member proteins. [provided by RefSeq, Jul 2008]
|
a1c
|
|
a1c3a4a5
|
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a1cyclin
|
|
a1domain
|
|
a1mediated
|
|
a1pim
|
|
a1r
|
|
a1rs
|
|
a1up1
|
|
a20
|
Murine B-lymphoma cell line. PMID: 14738152 [BTO:0001930]
|
a202c
|
|
a2044g
|
|
a2058
|
|
a20c
|
|
a20deficient
|
|
a20mediated
|
|
a21
|
|
a218c
|
|
a218g
|
|
a22
|
|
a222v
|
|
a223g
|
|
a2301
|
|
a23187
|
|
a23187induced
|
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a2350gace
|
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a238g
|
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a23g
|
|
a24
|
|
a2402
|
|
a244v
|
|
a25
|
|
a2501
|
|
a2578c
|
|
a2756g
|
|
a2780
|
|
a2780cp
|
|
a2780cp70
|
|
a2780taxol
|
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a2790g
|
|
a285222
|
|
a287p
|
|
a2962g
|
|
a299g
|
|
a2a
|
|
a2a2
|
|
a2aadenosine
|
|
a2aar
|
|
a2activating
|
|
a2ad2
|
|
a2alpha
|
|
a2ap
|
|
a2ar
|
|
a2ard2r
|
|
a2areceptors
|
|
a2ars
|
|
a2b
|
|
a2b1
|
|
a2b2
|
|
a2bar
|
|
a2barklf4
|
|
a2bars
|
|
a2bp1
|
|
a2br
|
|
a2cdk2
|
|
a2containing
|
|
a2dependent
|
|
a2e
|
|
a2eladen
|
|
a2gamma
|
|
a2like
|
|
a2m
|
alpha-2-macroglobulin|Alpha-2-macroglobulin is a protease inhibitor and cytokine transporter. It inhibits many proteases, including trypsin, thrombin and collagenase. A2M is implicated in Alzheimer disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. [provided by RefSeq, Jul 2008]
|
a2mg
|
|
a2mileval
|
|
a2mvalval
|
|
a2p11
|
|
a2positive
|
|
a2re
|
|
a2s
|
|
a2s100a10
|
|
a2subunit
|
|
a2t
|
|
a2v
|
|
a3001
|
|
a3012
|
|
a308a
|
|
a30p
|
|
a31
|
|
a3101
|
|
a312h
|
|
a313g
|
|
a315t
|
|
a316g
|
|
a3201
|
|
a3243g
|
|
a33
|
|
a33exos
|
|
a341v
|
|
a341vkcne1
|
|
a341vkcnq1kcne1
|
|
a35931c
|
|
a36
|
|
a370t
|
|
a375
|
|
a375s2
|
|
a386g
|
|
a387p
|
|
a388g
|
|
a392g
|
|
a39526aa
|
|
a39r
|
|
a3a
|
|
a3ar
|
|
a3b
|
|
a3d8
|
|
a3f
|
|
a3g
|
|
a3h
|
|
a3induced
|
|
a3ip
|
|
a3r
|
|
a419c
|
|
a431
|
|
a4401g
|
|
a457h
|
|
a46
|
|
a487a
|
|
a4889g
|
|
a489
|
|
a498
|
|
a501
|
|
a503v
|
|
a509v
|
|
a53t
|
|
a54
|
|
a549
|
|
a549cddp
|
|
a549ddp
|
|
a55v
|
|
a572v
|
|
a590t
|
|
a5activated
|
|
a61g
|
|
a65s
|
|
a66g
|
|
a670g
|
|
a673
|
|
a67g
|
|
a67t
|
|
a6986g
|
|
a69s
|
|
a6b1
|
|
a6g
|
|
a7445g
|
|
a761
|
|
a779c
|
|
a77g
|
|
a7r5
|
|
a80g
|
|
a816c
|
|
a8186
|
|
a821
|
|
a8344g
|
|
a839g
|
|
a861g
|
|
a87t
|
|
a880t
|
|
a89
|
|
a8923c
|
|
a8oxog
|
|
a8s100
|
|
a91vprf1
|
|
a922g
|
|
a986s
|
|
aa2m
|
|
aa307312
|
|
aa7690
|
|
aaa
|
|
aaaa
|
|
aaaag2
|
|
aaaassociated
|
|
aaaatpase
|
|
aaac
|
|
aaaca11
|
|
aaag
|
|
aaahs
|
|
aaas
|
achalasia, adrenocortical insufficiency, alacrimia|The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
|
aaat
|
|
aaathe
|
|
aabs
|
|
aac
|
|
aac11
|
|
aaca
|
|
aacc
|
|
aacetylcholinesterase
|
|
aacid
|
|
aacs
|
acetoacetyl-CoA synthetase|
|
aactivation
|
|
aacvribalk4smaddependent
|
|
aacytidine
|
|
aad
|
|
aadhd
|
|
aadinduced
|
|
aaf
|
|
aag
|
|
aag8
|
|
aaga
|
|
aagc
|
|
aagenotype
|
|
aah
|
|
aai
|
|
aaidna
|
|
aak1
|
AP2 associated kinase 1|Adaptor-related protein complex 2 (AP-2 complexes) functions during receptor-mediated endocytosis to trigger clathrin assembly, interact with membrane-bound receptors, and recruit encodytic accessory factors. This gene encodes a member of the SNF1 subfamily of Ser/Thr protein kinases. The protein interacts with and phosphorylates a subunit of the AP-2 complex, which promotes binding of AP-2 to sorting signals found in membrane-bound receptors and subsequent receptor endocytosis. Its kinase activity is stimulated by clathrin. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
|
aallele
|
|
aalpha
|
|
aam
|
|
aamp
|
angio-associated, migratory cell protein|The gene is a member of the immunoglobulin superfamily. The encoded protein is associated with angiogenesis, with potential roles in endothelial tube formation and the migration of endothelial cells. It may also regulate smooth muscle cell migration via the RhoA pathway. The encoded protein can bind to heparin and may mediate heparin-sensitive cell adhesion. [provided by RefSeq, Oct 2014]
|
aanat
|
aralkylamine N-acetyltransferase|The protein encoded by this gene belongs to the acetyltransferase superfamily. It is the penultimate enzyme in melatonin synthesis and controls the night/day rhythm in melatonin production in the vertebrate pineal gland. Melatonin is essential for the function of the circadian clock that influences activity and sleep. This enzyme is regulated by cAMP-dependent phosphorylation that promotes its interaction with 14-3-3 proteins and thus protects the enzyme against proteasomal degradation. This gene may contribute to numerous genetic diseases such as delayed sleep phase syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
|
aanatasmtmelatonin
|
|
aanchoring
|
|
aand
|
|
aandor
|
|
aao
|
|
aap
|
|
aapcs
|
|
aapnh
|
|
aar
|
Catalysis of the reaction: L-2-aminoadipate 6-semialdehyde + NADP+ + H2O = L-2-aminoadipate + NADPH + H+.
|
aare
|
|
aars2
|
alanyl-tRNA synthetase 2, mitochondrial|The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]
|
aarthritis
|
|
aas
|
|
aasociated
|
|
aassociated
|
|
aat
|
|
aat1
|
|
aataaa
|
|
aatd
|
|
aatf
|
apoptosis antagonizing transcription factor|The protein encoded by this gene was identified on the basis of its interaction with MAP3K12/DLK, a protein kinase known to be involved in the induction of cell apoptosis. This gene product contains a leucine zipper, which is a characteristic motif of transcription factors, and was shown to exhibit strong transactivation activity when fused to Gal4 DNA binding domain. Overexpression of this gene interfered with MAP3K12 induced apoptosis. [provided by RefSeq, Jul 2008]
|
aatients
|
|
aatil8
|
|
aatt
|
|
aau
|
|
aauaaa
|
|
aauthere
|
|
aav
|
|
aav2
|
|
aav5
|
|
aav8mediated
|
|
aavmediated
|
|
aavs
|
|
ab1
|
Strain of C. elegans described with phenotypes such as; increased social feeding, foraging behavior variant, carbon dioxide response variant, bordering
|
ab142
|
|
ab18
|
|
ab192
|
|
ab42
|
|
ab814
|
|
abacavir
|
|
abad
|
|
abadabeta
|
|
abadinhibiting
|
|
abalphac
|
|
aband
|
The dark-staining region of a sarcomere, in which myosin thick filaments are present; the center is traversed by the paler H zone, which in turn contains the M line.
|
abandon
|
|
abandonment
|
|
abands
|
|
abasic
|
|
abat
|
4-aminobutyrate aminotransferase|4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]
|
abbased
|
|
abberant
|
|
abbp1
|
|
abbreviated
|
|
abc
|
|
abc1
|
|
abc50
|
|
abca
|
|
abca1
|
ATP-binding cassette, sub-family A (ABC1), member 1|The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008]
|
abca12
|
ATP-binding cassette, sub-family A (ABC1), member 12|The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
|
abca1apoai
|
|
abca1dependent
|
|
abca1g1
|
|
abca1hcbs
|
|
abca1independent
|
|
abca1linked
|
|
abca1mediated
|
|
abca1r219k
|
|
abca1specific
|
|
abca2
|
ATP-binding cassette, sub-family A (ABC1), member 2|The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
abca3
|
ATP-binding cassette, sub-family A (ABC1), member 3|The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008]
|
abca4
|
ATP-binding cassette, sub-family A (ABC1), member 4|The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]
|
abca4deficient
|
|
abca5
|
ATP-binding cassette, sub-family A (ABC1), member 5|The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
|
abca6
|
ATP-binding cassette, sub-family A (ABC1), member 6|The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008]
|
abca7
|
ATP-binding cassette, sub-family A (ABC1), member 7|The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008]
|
abca7rs3764650
|
|
abca8
|
ATP-binding cassette, sub-family A (ABC1), member 8|The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
|
abcb
|
|
abcb1
|
ATP-binding cassette, sub-family B (MDR/TAP), member 1|The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is an ATP-dependent drug efflux pump for xenobiotic compounds with broad substrate specificity. It is responsible for decreased drug accumulation in multidrug-resistant cells and often mediates the development of resistance to anticancer drugs. This protein also functions as a transporter in the blood-brain barrier. [provided by RefSeq, Jul 2008]
|
abcb10
|
ATP-binding cassette, sub-family B (MDR/TAP), member 10|The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The function of this mitochondrial protein is unknown. [provided by RefSeq, Jul 2008]
|
abcb11
|
ATP-binding cassette, sub-family B (MDR/TAP), member 11|The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008]
|
abcb1abcb4
|
|
abcb1abcc4
|
|
abcb1abcg2review
|
|
abcb1mdr1
|
|
abcb4
|
ATP-binding cassette, sub-family B (MDR/TAP), member 4|The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]
|
abcb5
|
ATP-binding cassette, sub-family B (MDR/TAP), member 5|ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008]
|
abcb5positive
|
|
abcb6
|
ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)|The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function. [provided by RefSeq, Jul 2008]
|
abcb7
|
ATP-binding cassette, sub-family B (MDR/TAP), member 7|The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]
|
abcb8
|
ATP-binding cassette, sub-family B (MDR/TAP), member 8|This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
|
abcc1
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 1|The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra-and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternatively spliced variants of this gene have been described but their full-length nature is unknown. [provided by RefSeq, Apr 2012]
|
abcc1mrp1
|
|
abcc2
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 2|The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008]
|
abcc3
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 3|The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein has not yet been determined; however, this protein may play a role in the transport of biliary and intestinal excretion of organic anions. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
|
abcc4
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 4|The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]
|
abcc4abcc4
|
|
abcc4mrp4
|
|
abcc5
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 5|The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions in the cellular export of its substrate, cyclic nucleotides. This export contributes to the degradation of phosphodiesterases and possibly an elimination pathway for cyclic nucleotides. Studies show that this protein provides resistance to thiopurine anticancer drugs, 6-mercatopurine and thioguanine, and the anti-HIV drug 9-(2-phosphonylmethoxyethyl)adenine. This protein may be involved in resistance to thiopurines in acute lymphoblastic leukemia and antiretroviral nucleoside analogs in HIV-infected patients. Alternative splicing of this gene has been detected; however, the complete sequence and translation initiation site is unclear. [provided by RefSeq, Jul 2008]
|
abcc6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6|The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]
|
abcc6p1
|
|
abcc7
|
|
abcc8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8|The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
|
abcc8kcnj11
|
|
abcd
|
|
abcd1
|
ATP-binding cassette, sub-family D (ALD), member 1|The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008]
|
abcd2
|
ATP-binding cassette, sub-family D (ALD), member 2|The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of ABCD1 and/or other peroxisomal ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis. [provided by RefSeq, Jul 2008]
|
abcd3
|
ATP-binding cassette, sub-family D (ALD), member 3|The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
|
abce1
|
ATP-binding cassette, sub-family E (OABP), member 1|The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the OABP subfamily. Alternatively referred to as the RNase L inhibitor, this protein functions to block the activity of ribonuclease L. Activation of ribonuclease L leads to inhibition of protein synthesis in the 2-5A/RNase L system, the central pathway for viral interferon action. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
|
abcf1
|
ATP-binding cassette, sub-family F (GCN20), member 1|The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the GCN20 subfamily. Unlike other members of the superfamily, this protein lacks the transmembrane domains which are characteristic of most ABC transporters. This protein may be regulated by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis and the inflammation process. [provided by RefSeq, Jul 2008]
|
abcf1in
|
|
abcf2
|
ATP-binding cassette, sub-family F (GCN20), member 2|This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ATP-binding casette proteins transport various molecules across extra- and intracellular membranes. Alterations in this gene may be involved in cancer progression. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 3 and 7. [provided by RefSeq, Jul 2013]
|
abcg1
|
ATP-binding cassette, sub-family G (WHITE), member 1|The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. It is involved in macrophage cholesterol and phospholipids transport, and may regulate cellular lipid homeostasis in other cell types. Six alternative splice variants have been identified. [provided by RefSeq, Jul 2008]
|
abcg1dependent
|
|
abcg1mediated
|
|
abcg1specific
|
|
abcg2
|
ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)|The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
|
abcg2abcg2
|
|
abcg2bcrp
|
|
abcg2dependent
|
|
abcg2mediated
|
|
abcg2overexpressing
|
|
abcg4
|
ATP-binding cassette, sub-family G (WHITE), member 4|The protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily and is expressed predominantly in liver tissue. The function has not yet been determined but may involve cholesterol transport. Alternate splice variants have been described but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]
|
abcg5
|
ATP-binding cassette, sub-family G (WHITE), member 5|The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]
|
abcg58
|
|
abcg5abcg8
|
|
abcg5g8
|
|
abcg8
|
ATP-binding cassette, sub-family G (WHITE), member 8|The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]
|
abcg8mediated
|
|
abcgg5
|
|
abciximab
|
|
abclip
|
|
abcp
|
|
abcr
|
|
abcrystallin
|
|
abctransporter
|
Catalysis of the reaction: ATP + H2O = ADP + phosphate, to directly drive the active transport of a substance across a membrane.
|
abctransporters
|
|
abd
|
|
abd1556
|
|
abdeltac
|
|
abdomen
|
1: The part of the body between the thorax and the pelvis; also: the cavity of this part of the trunk containing the chief viscera. 2: The posterior section of the body behind the thorax in an arthropod.
|
abdominaal
|
|
abdominal
|
|
abelson
|
|
aberrance
|
|
aberrancies
|
|
aberrant
|
|
aberrantly
|
|
aberration
|
|
aberrations
|
|
abeta
|
|
abeta111
|
|
abeta140
|
|
abeta142
|
|
abeta142induced
|
|
abeta142reactive
|
|
abeta2535
|
|
abeta34
|
|
abeta40
|
|
abeta4042
|
|
abeta42
|
|
abeta4240
|
|
abeta4243
|
|
abeta42abeta40
|
|
abeta42induced
|
|
abeta42lowering
|
|
abeta42peptidetumor
|
|
abetaactivated
|
|
abetaassociated
|
|
abetabinding
|
|
abetadegrading
|
|
abetadependent
|
|
abetaindependent
|
|
abetainduced
|
|
abetalipoproteinaemia
|
|
abetalipoproteinemia
|
A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_physical_basis_in an autosomal recessive disorder of lipid metabolism caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL).
|
abetamediated
|
|
abetaos
|
|
abetapeptide
|
|
abetapositive
|
|
abetapp
|
|
abetappnull
|
|
abetapppresenilin1
|
|
abetarelated
|
|
abetas
|
|
abf1
|
|
abg
|
|
abh
|
|
abh2
|
|
abh3
|
|
abhd5
|
abhydrolase domain containing 5|The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]
|
abhydrolase
|
|
abi
|
|
abi1
|
abl-interactor 1|This gene encodes a member of the Abelson-interactor family of adaptor proteins. These proteins facilitate signal transduction as components of several multiprotein complexes, and regulate actin polymerization and cytoskeletal remodeling through interactions with Abelson tyrosine kinases. The encoded protein plays a role in macropinocytosis as a component of the WAVE2 complex, and also forms a complex with EPS8 and SOS1 that mediates signal transduction from Ras to Rac. This gene may play a role in the progression of several malignancies including melanoma, colon cancer and breast cancer, and a t(10;11) chromosomal translocation involving this gene and the MLL gene has been associated with acute myeloid leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Sep 2011]
|
abi1bridged
|
|
abi1mediated
|
|
abi2
|
abl-interactor 2|
|
abi3
|
ABI family, member 3|This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are components of the Abi/WAVE complex which regulates actin polymerization. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
|
abidia
|
|
abilities
|
|
ability
|
|
abin
|
|
abin1
|
|
abin12
|
|
abin2
|
|
abin3
|
|
abinding
|
|
abinduced
|
|
abinsensitive
|
|
abiraterone
|
|
abiwave
|
|
abl
|
|
abl1
|
ABL proto-oncogene 1, non-receptor tyrosine kinase|This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]
|
abl1dependent
|
|
abl2
|
ABL proto-oncogene 2, non-receptor tyrosine kinase|This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinases. The protein is highly similar to the c-abl oncogene 1 protein, including the tyrosine kinase, SH2 and SH3 domains, and it plays a role in cytoskeletal rearrangements through its C-terminal F-actin- and microtubule-binding sequences. This gene is expressed in both normal and tumor cells, and is involved in translocation with the ets variant 6 gene in leukemia. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2009]
|
abl2arg
|
|
ablate
|
|
ablated
|
|
ablates
|
|
ablating
|
|
ablation
|
|
ablbcr
|
|
ablcrkii
|
|
able
|
|
ablebodied
|
|
ablevoked
|
|
ablinteractor
|
|
ablkinase
|
|
ablmediated
|
|
abloop
|
|
ablrelated
|
|
ablumenal
|
|
abluminal
|
|
abmd
|
|
abmediated
|
|
abmr
|
|
abnormal
|
|
abnormalities
|
|
abnormality
|
|
abnormalization
|
|
abnormally
|
|
abnormity
|
|
abo
|
ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)|This gene encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Jul 2008]
|
aboincompatible
|
|
abolish
|
|
abolished
|
|
abolishes
|
|
abolishing
|
|
abolishment
|
|
abolition
|
|
aboriginal
|
|
aborigines
|
|
aborted
|
|
abortion
|
|
abortions
|
|
abortive
|
|
abortus
|
|
abounds
|
|
about
|
|
above
|
|
abovecited
|
|
abovemedian
|
|
abovementioned
|
|
abovenormal
|
|
abox
|
|
abp
|
|
abp1
|
|
abpa
|
|
abpositive
|
|
abrasively
|
|
abraxas
|
|
abrin
|
|
abro1
|
|
abrogate
|
|
abrogated
|
|
abrogates
|
|
abrogatesil6
|
|
abrogating
|
|
abrogation
|
|
abrupt
|
|
abruptio
|
|
abruption
|
|
abruptionassociated
|
|
abruptly
|
|
abs
|
|
abscence
|
|
abscess
|
|
abscesses
|
|
abscessus
|
|
abscission
|
The controlled shedding of a body part.
|
absence
|
|
absense
|
|
absent
|
|
absentc1
|
|
absentgstm1
|
|
absentlow
|
|
absentreduced
|
|
absolute
|
|
absolutely
|
|
absorbance
|
|
absorbed
|
|
absorbing
|
|
absorption
|
|
absorptive
|
|
abstain
|
|
abstinence
|
|
abstinent
|
|
abstract
|
|
abt199
|
|
abt737
|
|
abt869
|
|
abundance
|
|
abundances
|
|
abundant
|
|
abundantly
|
|
abuse
|
|
abusedependence
|
|
abusereview
|
|
abusers
|
|
abusing
|
|
abutting
|
|
abvd
|
|
abysmal
|
|
ac1
|
|
ac1166
|
|
ac130710
|
|
ac133
|
|
ac133cd34
|
|
ac1cftr
|
|
ac2
|
|
ac3123
|
|
ac333
|
|
ac4
|
|
ac5
|
|
ac6
|
|
ac7
|
|
ac8
|
|
ac9
|
|
aca
|
|
acaa2
|
acetyl-CoA acyltransferase 2|The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal. [provided by RefSeq, Jul 2008]
|
acaca
|
acetyl-CoA carboxylase alpha|Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
acacb
|
acetyl-CoA carboxylase beta|Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. There is evidence for the presence of two ACC-beta isoforms. [provided by RefSeq, Jul 2008]
|
acaccc
|
|
acacetin
|
|
acad
|
A T cell apoptotic process that occurs towards the end of the expansion phase following the initial activation of mature T cells by antigen via the accumulation of pro-apoptotic gene products and decrease in anti-apoptotic gene products.
|
academic
|
|
acadian
|
|
acalculous
|
|
acan
|
aggrecan|This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008]
|
acanthamoeba
|
|
acantholysis
|
The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.
|
acantholytic
|
|
acanthoma
|
|
acanthosis
|
|
acap1
|
ArfGAP with coiled-coil, ankyrin repeat and PH domains 1|
|
acap4
|
|
acapositive
|
|
acapsular
|
|
acarbose
|
A tetrasaccharide derivative consisting of a dideoxy-4-{[4,5,6-trihydroxy-3-(hydroxymethyl)cyclohex-2-en-1-yl C7 cyclitol moiety [called valienol (or valienamine)] linked via nitrogen to isomaltotriose.
|
acas
|
|
acat
|
|
acat1
|
acetyl-CoA acetyltransferase 1|This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009]
|
acat2
|
acetyl-CoA acetyltransferase 2|The product of this gene is an enzyme involved in lipid metabolism, and it encodes cytosolic acetoacetyl-CoA thiolase. This gene shows complementary overlapping with the 3-prime region of the TCP1 gene in both mouse and human. These genes are encoded on opposite strands of DNA, as well as in opposite transcriptional orientation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
|
acatcholesterol
|
|
acativation
|
|
acbd3
|
acyl-CoA binding domain containing 3|The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is involved in the maintenance of Golgi structure and function through its interaction with the integral membrane protein giantin. It may also be involved in the hormonal regulation of steroid formation. [provided by RefSeq, Jul 2008]
|
acbd3interacting
|
|
acbp
|
|
acc
|
|
acc1
|
|
acc2
|
|
acca
|
|
accalpha
|
|
accampepac
|
|
accbeta
|
|
accc
|
|
accdlpfc
|
|
accelerate
|
|
accelerated
|
|
accelerates
|
|
accelerating
|
|
acceleration
|
|
accelerationdeceleration
|
|
accelerator
|
|
accentuate
|
|
accentuated
|
|
accentuates
|
|
accentuating
|
|
accept
|
|
acceptable
|
|
acceptance
|
|
accepted
|
|
acceptible
|
|
accepting
|
|
acceptor
|
|
acceptor1
|
|
acceptorbleaching
|
|
acceptors
|
|
accepts
|
|
access
|
|
accessibility
|
|
accessible
|
|
accessing
|
|
accession
|
|
accessory
|
|
accf
|
|
accg
|
|
accident
|
|
accidental
|
|
accidents
|
|
acclimation
|
|
acclimatization
|
|
accmybnfib
|
|
accommodate
|
|
accommodated
|
|
accommodates
|
|
accommodating
|
|
accommodation
|
|
accompanied
|
|
accompanies
|
|
accompaniment
|
|
accompany
|
|
accompanying
|
|
accomplish
|
|
accomplished
|
|
accomplishes
|
|
accomplishment
|
|
accord
|
|
accordance
|
|
accorded
|
|
according
|
|
accordingly
|
|
account
|
|
accountable
|
|
accounted
|
|
accounting
|
|
accounts
|
|
accreta
|
|
accretion
|
|
accrual
|
|
accrued
|
|
accumbens
|
|
accumulate
|
|
accumulated
|
|
accumulates
|
|
accumulating
|
|
accumulation
|
|
accumulationdeficient
|
|
accumulationfoam
|
|
accumulations
|
|
accumulative
|
|
accuracies
|
|
accuracy
|
|
accurate
|
|
accurately
|
|
acd
|
adrenocortical dysplasia homolog (mouse)|This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008]
|
acdase
|
|
acdk
|
|
acdk1
|
|
acdk12
|
|
acdk2
|
|
acdk2dependent
|
|
acdkdependent
|
|
acdks
|
|
acdl
|
|
acdmpv
|
|
ace
|
angiotensin I converting enzyme|This gene encodes an enzyme involved in catalyzing the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This enzyme plays a key role in the renin-angiotensin system. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme or cardiovascular pathophysiologies. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, and two most abundant spliced variants encode the somatic form and the testicular form, respectively, that are equally active. [provided by RefSeq, May 2010]
|
ace1
|
|
ace2
|
angiotensin I converting enzyme 2|The protein encoded by this gene belongs to the angiotensin-converting enzyme family of dipeptidyl carboxydipeptidases and has considerable homology to human angiotensin 1 converting enzyme. This secreted protein catalyzes the cleavage of angiotensin I into angiotensin 1-9, and angiotensin II into the vasodilator angiotensin 1-7. The organ- and cell-specific expression of this gene suggests that it may play a role in the regulation of cardiovascular and renal function, as well as fertility. In addition, the encoded protein is a functional receptor for the spike glycoprotein of the human coronaviruses SARS and HCoV-NL63. [provided by RefSeq, Jul 2008]
|
ace2ang17mas
|
|
acea2350g
|
|
aceace2
|
|
aceae
|
|
aceagt
|
|
acecough
|
|
acedd
|
|
acei
|
|
aceid
|
|
aceinhibitor
|
|
aceis
|
|
acellular
|
|
acemerin
|
|
acenocoumarol
|
|
acentriolar
|
|
acentrosomal
|
|
acer
|
|
acer2
|
|
acer2sphingosine
|
|
acesulfame
|
|
acetabular
|
|
acetal
|
|
acetaldehyde
|
The aldehyde formed from acetic acid by reduction of the carboxy group. It is the most abundant carcinogen in tobacco smoke.
|
acetaldehydedna
|
|
acetaldehydeinduced
|
|
acetaminophen
|
|
acetaminopheninduced
|
|
acetate
|
|
acetateactivated
|
|
acetatebound
|
|
acetateinduced
|
|
acetatepdgfbb
|
|
acetateresponsive
|
|
acetoacetylcoa
|
|
acetonide
|
|
acetyl
|
|
acetylase
|
|
acetylasecoactivator
|
|
acetylasedeacetylase
|
|
acetylatation
|
|
acetylate
|
|
acetylated
|
|
acetylatedfoxo
|
|
acetylates
|
|
acetylating
|
|
acetylation
|
|
acetylationbim
|
|
acetylationdeacetylation
|
|
acetylationdependent
|
|
acetylationexchange
|
|
acetylationh12
|
|
acetylationmediated
|
|
acetylationphosphorylation
|
|
acetylations
|
|
acetylator
|
|
acetylators
|
|
acetylcholine
|
|
acetylcholineesterase
|
|
acetylcholineinduced
|
|
acetylcholinesterase
|
|
acetylcoa
|
|
acetylcoacarboxylase
|
|
acetylcoenzyme
|
|
acetylglucosamine
|
|
acetylhydrolase
|
|
acetylized
|
|
acetyllysine
|
|
acetyllysinebinding
|
|
acetylmethyl
|
|
acetylsalicylic
|
|
acetyltranferasescbp
|
|
acetyltransferase
|
|
acetyltransferases
|
|
acf
|
|
acf1
|
|
acf1snf2h
|
|
acf7
|
|
acfso
|
|
acg
|
|
acgh
|
|
acgt
|
|
acgtct
|
|
ach
|
|
ach4
|
|
achaete
|
|
achaetescute
|
|
achain
|
|
achaindomain
|
|
achalasia
|
An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing.
|
achang
|
|
achblf
|
|
ache
|
An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS.
|
achebuche
|
|
acher
|
|
acheron
|
|
aches
|
An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS.
|
achet
|
|
achievable
|
|
achieve
|
|
achieved
|
|
achievement
|
|
achievements
|
|
achieves
|
|
achieving
|
|
achilles
|
|
achinduced
|
|
achinery
|
|
achn
|
|
achr
|
|
achrgamma
|
|
achromatopsia
|
A color blindness that is characterized by a congenital color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance.
|
achromats
|
|
achrs
|
|
aci
|
|
acicc
|
|
acid
|
|
acidactivated
|
|
acidaemia
|
|
acidb
|
|
acidbase
|
|
acidbased
|
|
acidbetaglucosidase
|
|
acidbinding
|
|
acidbound
|
|
acidcoa
|
|
acidcontaining
|
|
acidcoupled
|
|
aciddependent
|
|
aciddeprived
|
|
aciddifferentiated
|
|
acidelicited
|
|
acidemia
|
|
acidenhanced
|
|
acidergic
|
|
acidfast
|
|
acidgated
|
|
acidgrip1
|
|
acidic
|
|
acidification
|
Any process that reduces the internal pH of an organism, part of an organism or a cell, measured by the concentration of the hydrogen ion.
|
acidified
|
|
acidify
|
|
acidindependent
|
|
acidinduced
|
|
acidinducible
|
|
acidity
|
|
acidlabile
|
|
acidlinoleic
|
|
acidlysine
|
|
acidlysophosphatidic
|
|
acidmediated
|
|
acidmetabolizing
|
|
acidmodified
|
|
acidophilus
|
|
acidosis
|
Abnormal acid accumulation or depletion of base.
|
acidosisgpr4
|
|
acidosisinduced
|
|
acidosismediated
|
|
acidotic
|
|
acidp2y5
|
|
acidphospholipase
|
|
acidproducing
|
|
acidra
|
|
acidregulated
|
|
acidrelated
|
|
acidresponsive
|
|
acidrich
|
|
acids
|
|
acidsa
|
|
acidscan
|
|
acidsensing
|
|
acidsensitive
|
|
acidspecific
|
|
acidstable
|
|
acidstarved
|
|
acidstimulated
|
|
acidsubstituted
|
|
acidthe
|
|
acidtreated
|
|
acidtriggered
|
|
acidunfolded
|
|
aciduria
|
Ecretion of urine with an acid pH.
|
acidurias
|
|
acinar
|
|
acinartoductal
|
|
acinetobacter
|
|
acini
|
|
acinic
|
|
acinus
|
|
acinusdependent
|
|
acinusmediated
|
|
acis
|
|
acitivation
|
|
acitivty
|
|
acitvation
|
|
acivity
|
|
ack
|
|
ack1
|
|
ack1dependent
|
|
ack1mig6
|
|
ack2
|
|
acknowledged
|
|
ackr3
|
|
acl
|
|
aclass
|
|
acldl
|
|
aclfhbv
|
|
aclfpatients
|
|
aclp
|
|
acly
|
ATP citrate lyase|ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2014]
|
acmpag
|
|
acn
|
|
acne
|
A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors.
|
acnes
|
|
acnesinduced
|
|
acnp
|
|
aco1
|
aconitase 1, soluble|The protein encoded by this gene is a bifunctional, cytosolic protein that functions as an essential enzyme in the TCA cycle and interacts with mRNA to control the levels of iron inside cells. When cellular iron levels are high, this protein binds to a 4Fe-4S cluster and functions as an aconitase. Aconitases are iron-sulfur proteins that function to catalyze the conversion of citrate to isocitrate. When cellular iron levels are low, the protein binds to iron-responsive elements (IREs), which are stem-loop structures found in the 5' UTR of ferritin mRNA, and in the 3' UTR of transferrin receptor mRNA. When the protein binds to IRE, it results in repression of translation of ferritin mRNA, and inhibition of degradation of the otherwise rapidly degraded transferrin receptor mRNA. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jan 2014]
|
aco2
|
aconitase 2, mitochondrial|The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative modification. [provided by RefSeq, Jul 2008]
|
acociate
|
|
aconitase
|
|
aconitaseirp1
|
|
acontaining
|
|
acot4
|
acyl-CoA thioesterase 4|
|
acot8
|
acyl-CoA thioesterase 8|The protein encoded by this gene is a peroxisomal thioesterase that appears to be involved more in the oxidation of fatty acids rather than in their formation. The encoded protein can bind to the human immunodeficiency virus-1 protein Nef, and mediate Nef-induced down-regulation of CD4 in T-cells. [provided by RefSeq, Oct 2010]
|
acoustic
|
|
acox1
|
acyl-CoA oxidase 1, palmitoyl|The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
acp
|
|
acp1
|
acid phosphatase 1, soluble|The product of this gene belongs to the phosphotyrosine protein phosphatase family of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase by hydrolyzing protein tyrosine phosphate to protein tyrosine and orthophosphate. This enzyme also hydrolyzes orthophosphoric monoesters to alcohol and orthophosphate. This gene is genetically polymorphic, and three common alleles segregating at the corresponding locus give rise to six phenotypes. Each allele appears to encode at least two electrophoretically different isozymes, Bf and Bs, which are produced in allele-specific ratios. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2008]
|
acp1aada12
|
|
acp1c
|
|
acp5
|
acid phosphatase 5, tartrate resistant|This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. [provided by RefSeq, Aug 2008]
|
acpa
|
|
acpanegative
|
|
acpapositive
|
|
acpl1
|
|
acquire
|
|
acquired
|
|
acquirement
|
|
acquires
|
|
acquiring
|
|
acquisita
|
|
acquisition
|
|
acr
|
acrosin|Acrosin is the major proteinase present in the acrosome of mature spermatozoa. It is a typical serine proteinase with trypsin-like specificity. It is stored in the acrosome in its precursor form, proacrosin. The active enzyme functions in the lysis of the zona pellucida, thus facilitating penetration of the sperm through the innermost glycoprotein layers of the ovum. The mRNA for proacrosin is synthesized only in the postmeiotic stages of spermatogenesis. In humans proacrosin first appears in the haploid spermatids. [provided by RefSeq, Jul 2008]
|
acr16
|
|
acral
|
|
acreb
|
|
acreb1
|
|
acrebpgc1alpha
|
|
acrich
|
|
acridine
|
|
acrocallosal
|
|
acrodermatitis
|
|
acrodysostosis
|
A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency.
|
acrofacial
|
|
acrolein
|
An enal that is prop-2-ene with an oxo group at position 1.
|
acroleininduced
|
|
acromegalic
|
|
acromegaly
|
A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb.
|
acromelic
|
|
acromesomelic
|
|
acromicric
|
|
acrorenalocular
|
|
acrosin
|
|
acrosomal
|
|
acrosome
|
A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome.
|
across
|
|
acrp30
|
|
acrylamide
|
A member of the class of acrylamides that results from the formal condensation of acrylic acid with ammonia.
|
acrystallin
|
|
acs
|
|
acs5
|
|
acsl
|
|
acsl1
|
acyl-CoA synthetase long-chain family member 1|The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
|
acsl3
|
acyl-CoA synthetase long-chain family member 3|The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in brain, and preferentially utilizes myristate, arachidonate, and eicosapentaenoate as substrates. The amino acid sequence of this isozyme is 92% identical to that of rat homolog. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
|
acsl35
|
|
acsl4
|
acyl-CoA synthetase long-chain family member 4|The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme preferentially utilizes arachidonate as substrate. The absence of this enzyme may contribute to the mental retardation or Alport syndrome. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]
|
acss2
|
acyl-CoA synthetase short-chain family member 2|This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
|
act
|
|
act1
|
|
act1traf6
|
|
act1traf6tak1mediated
|
|
act1v1d19n
|
|
act1v2d10n
|
|
acta
|
|
acta2
|
actin, alpha 2, smooth muscle, aorta|The protein encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Defects in this gene cause aortic aneurysm familial thoracic type 6. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008]
|
actb
|
actin, beta|This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, and integrity. This actin is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins. [provided by RefSeq, Jul 2008]
|
actbgli
|
|
actc
|
|
acted
|
|
actg1
|
actin gamma 1|Actins are highly conserved proteins that are involved in various types of cell motility, and maintenance of the cytoskeleton. In vertebrates, three main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton, and as mediators of internal cell motility. Actin, gamma 1, encoded by this gene, is a cytoplasmic actin found in non-muscle cells. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]
|
actg2
|
actin, gamma 2, smooth muscle, enteric|Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]
|
acth
|
|
acthcamp
|
|
acthdependent
|
|
acthindependent
|
|
acthinduced
|
|
acthmc2r
|
|
acthr
|
|
acthsecreting
|
|
acthstimulated
|
|
acti
|
|
actigraphyderived
|
|
actin
|
|
actinactivated
|
|
actinassociated
|
|
actinbased
|
|
actinbinding
|
Interacting selectively and non-covalently with monomeric or multimeric forms of actin, including actin filaments.
|
actinbundling
|
|
actincapping
|
|
actincontaining
|
|
actincrosslinking
|
The process in which two or more actin filaments are connected together by proteins that act as crosslinks between the filaments. The crosslinked filaments may be on the same or differing axes.
|
actincytoskeleton
|
The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
|
actincytoskeletonbased
|
|
actindependent
|
|
actindepolymerizing
|
|
actinegfp
|
|
actinencoding
|
|
actinenriched
|
|
actinfilament
|
A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane.
|
acting
|
|
actinic
|
|
actinin
|
|
actinin1
|
|
actinin2
|
|
actinin3
|
|
actinin4
|
|
actinlike
|
|
actinlinking
|
|
actinmediated
|
|
actinmkl1
|
|
actinmyosin
|
|
actinmyosiniibinding
|
|
actinnucleating
|
|
actinobacillus
|
|
actinomycetemcomitans
|
|
actinomycin
|
|
actinpositive
|
|
actinregulating
|
|
actinrelated
|
|
actinrich
|
|
actins
|
|
actinsevering
|
|
actinstabilizing
|
|
actinstress
|
|
actintropomyosin
|
|
action
|
|
actionable
|
|
actions
|
|
activ
|
|
activat
|
|
activatable
|
|
activate
|
|
activated
|
|
activatedeffector
|
|
activatedphosphorylated
|
|
activates
|
|
activati
|
|
activating
|
|
activatio
|
|
activationap1
|
|
activationare
|
|
activationassociated
|
|
activationbax
|
|
activationdeactivation
|
|
activationdegradation
|
|
activationdegranulation
|
|
activationdependent
|
|
activationdetoxication
|
|
activationdifferentiation
|
|
activationfor
|
|
activationinactivation
|
|
activationindependent
|
|
activationinduced
|
|
activationinvasiveness
|
|
activationloop
|
|
activationmediated
|
|
activationphosphorylation
|
|
activationpromoted
|
|
activationregulated
|
|
activationrepression
|
|
activationreview
|
|
activations
|
|
activationspecific
|
|
activationstate
|
|
activationstimulated
|
|
activationtermination
|
|
activativates
|
|
activator
|
|
activatorbinding
|
|
activatordependent
|
|
activatorfree
|
|
activatorinduced
|
|
activatorlike
|
|
activatormediated
|
|
activatorplasmin
|
|
activatorpromoter
|
|
activators
|
|
activatorstimulated
|
|
activatory
|
|
activatted
|
|
active
|
|
activeandrostane
|
|
actived
|
|
activeform
|
|
activeigf1r
|
|
activeligandbinding
|
|
actively
|
|
activemature
|
|
activemmp2
|
|
actives
|
|
activesite
|
|
activi
|
|
activiation
|
|
activin
|
|
activina
|
|
activinalk4
|
|
activinaresponsive
|
|
activinbetac
|
|
activinbmp
|
|
activininduced
|
|
activinlike
|
|
activinmediated
|
|
activinnodal
|
|
activinregulated
|
|
activins
|
|
activinstimulated
|
|
activities
|
|
activition
|
|
activitity
|
|
activitiy
|
|
activityassociated
|
|
activitybased
|
|
activitydependent
|
|
activityindependent
|
|
activityinduced
|
|
activityloss
|
|
activitymodifying
|
|
activityof
|
|
activityreducing
|
|
activityrelated
|
|
activityreview
|
|
activiy
|
|
actl6a
|
actin-like 6A|This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described. [provided by RefSeq, Jul 2008]
|
actl9
|
|
actn1
|
actinin, alpha 1|Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
actn3
|
actinin, alpha 3 (gene/pseudogene)|This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Feb 2014]
|
actn3ace
|
|
actn4
|
actinin, alpha 4|Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq, Jul 2008]
|
actn4mediated
|
|
actomyosin
|
Any complex of actin, myosin, and accessory proteins.
|
actomyosindriven
|
|
actomyosinmediated
|
|
actopaxin
|
|
actor
|
|
actors
|
|
actr
|
|
actre2f1
|
|
actrib
|
|
actrii
|
|
actriia
|
|
actriib
|
|
acts
|
|
actual
|
|
actually
|
|
actuarial
|
|
actuator
|
|
acuity
|
|
acuminata
|
|
acuminatum
|
|
acupuncture
|
|
acure
|
|
acute
|
|
acutely
|
|
acuteonchronic
|
|
acutephase
|
|
acutetype
|
|
acutte
|
|
acv
|
|
acvr1
|
activin A receptor, type I|Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]
|
acvr1b
|
activin A receptor, type IB|This gene encodes an activin A type IB receptor. Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]
|
acvr2
|
|
acvr2b
|
activin A receptor, type IIB|Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]
|
acvrl1
|
activin A receptor type II-like 1|This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]
|
acvrl1activin
|
|
acvrl1alk1
|
|
acvrl1smad1
|
|
acw
|
|
acyanotic
|
|
acyclindependent
|
|
acyclovir
|
An oxopurine that is guanine substituted by a (2-hydroxyethoxy)methyl substituent at position 9.
|
acyl
|
|
acylaminoacylpeptidase
|
|
acylated
|
|
acylation
|
|
acylationdeacylation
|
|
acylationstimulating
|
|
acylcarnitine
|
|
acylcarnitines
|
|
acylcoa
|
|
acylcoas
|
|
acylcoenzyme
|
|
acylglycerols
|
|
acylmodified
|
|
acyloxy
|
|
acylphosphatase
|
|
acylprotein
|
|
acyltransferase
|
|
acyltransferase1
|
|
acyltransferases
|
|
ad01
|
|
ad1
|
|
ad11
|
|
ad12
|
|
ad158
|
|
ad2
|
|
ad3
|
|
ad31
|
|
ad4bpsf1
|
|
ad4bpsf1binding
|
|
ad4bpsf1dependent
|
|
ad5
|
|
ad5e1a
|
|
ada
|
adenosine deaminase|This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine. Various mutations have been described for this gene and have been linked to human diseases. Deficiency in this enzyme causes a form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins, whereas elevated levels of this enzyme have been associated with congenital hemolytic anemia. [provided by RefSeq, Jul 2008]
|
ada1
|
|
ada2
|
|
ada2a
|
|
ada2b
|
|
ada3
|
|
adadeficient
|
|
adalimumab
|
|
adam
|
|
adam10
|
ADAM metallopeptidase domain 10|Members of the ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. This gene encodes and ADAM family member that cleaves many proteins including TNF-alpha and E-cadherin. [provided by RefSeq, Jul 2008]
|
adam1017
|
|
adam10adam17
|
|
adam10dependent
|
|
adam10dll4
|
|
adam10mediated
|
|
adam12
|
ADAM metallopeptidase domain 12|This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014]
|
adam12l
|
|
adam12m
|
|
adam12s
|
|
adam15
|
ADAM metallopeptidase domain 15|The protein encoded by this gene is a member of the ADAM (a disintegrin and metalloproteinase) protein family. ADAM family members are type I transmembrane glycoproteins known to be involved in cell adhesion and proteolytic ectodomain processing of cytokines and adhesion molecules. This protein contains multiple functional domains including a zinc-binding metalloprotease domain, a disintegrin-like domain, as well as a EGF-like domain. Through its disintegrin-like domain, this protein specifically interacts with the integrin beta chain, beta 3. It also interacts with Src family protein-tyrosine kinases in a phosphorylation-dependent manner, suggesting that this protein may function in cell-cell adhesion as well as in cellular signaling. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
|
adam15b
|
|
adam15v2
|
|
adam17
|
ADAM metallopeptidase domain 17|This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene functions as a tumor necrosis factor-alpha converting enzyme; binds mitotic arrest deficient 2 protein; and also plays a prominent role in the activation of the Notch signaling pathway. [provided by RefSeq, Jul 2008]
|
adam17cleaved
|
|
adam17controlled
|
|
adam17dependent
|
|
adam17egfr
|
|
adam17mediated
|
|
adam17tace
|
|
adam19
|
ADAM metallopeptidase domain 19|This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This member is a type I transmembrane protein and serves as a marker for dendritic cell differentiation. It has been demonstrated to be an active metalloproteinase, which may be involved in normal physiological processes such as cell migration, cell adhesion, cell-cell and cell-matrix interactions, and signal transduction. It is proposed to play a role in pathological processes, such as cancer, inflammatory diseases, renal diseases, and Alzheimer's disease. [provided by RefSeq, May 2013]
|
adam22
|
ADAM metallopeptidase domain 22|This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Unlike other members of the ADAM protein family, the protein encoded by this gene lacks metalloprotease activity since it has no zinc-binding motif. This gene is highly expressed in the brain and may function as an integrin ligand in the brain. In mice, it has been shown to be essential for correct myelination in the peripheral nervous system. Alternative splicing results in several transcript variants.[provided by RefSeq, Dec 2010]
|
adam23
|
ADAM metallopeptidase domain 23|This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. It is reported that inactivation of this gene is associated with tumorigenesis in human cancers. [provided by RefSeq, May 2013]
|
adam27
|
|
adam28
|
ADAM metallopeptidase domain 28|This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is a lymphocyte-expressed ADAM protein. This gene is present in a gene cluster with other members of the ADAM family on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
|
adam28s
|
|
adam29
|
ADAM metallopeptidase domain 29|This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is highly expressed in testis and may be involved in human spermatogenesis. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]
|
adam33
|
ADAM metallopeptidase domain 33|This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This protein is a type I transmembrane protein implicated in asthma and bronchial hyperresponsiveness. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]
|
adam7
|
|
adam8
|
ADAM metallopeptidase domain 8|This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]
|
adam9
|
ADAM metallopeptidase domain 9|This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2010]
|
adam910mediated
|
|
adamantiadesbehcets
|
|
adamantinomatous
|
|
adamantyl
|
|
adamantylsubstituted
|
|
adamhbegfdependent
|
|
adamindependent
|
|
adaminduced
|
|
adammediated
|
|
adams
|
|
adamsoliver
|
|
adamts
|
|
adamts1
|
ADAM metallopeptidase with thrombospondin type 1 motif, 1|This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene contains two disintegrin loops and three C-terminal TS motifs and has anti-angiogenic activity. The expression of this gene may be associated with various inflammatory processes as well as development of cancer cachexia. This gene is likely to be necessary for normal growth, fertility, and organ morphology and function. [provided by RefSeq, Jul 2008]
|
adamts10
|
ADAM metallopeptidase with thrombospondin type 1 motif, 10|This gene belongs to the ADAMTS (a disintegrin and metalloproteinase domain with thrombospondin type-1 motifs) family of zinc-dependent proteases. ADAMTS proteases are complex secreted enzymes containing a prometalloprotease domain of the reprolysin type attached to an ancillary domain with a highly conserved structure that includes at least one thrombospondin type 1 repeat. They have been demonstrated to have important roles in connective tissue organization, coagulation, inflammation, arthritis, angiogenesis and cell migration. The product of this gene plays a major role in growth and in skin, lens, and heart development. It is also a candidate gene for autosomal recessive Weill-Marchesani syndrome. [provided by RefSeq, Jul 2008]
|
adamts12
|
ADAM metallopeptidase with thrombospondin type 1 motif, 12|This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008]
|
adamts13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13|This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
adamts13cleavable
|
|
adamts13dependent
|
|
adamts13mediated
|
|
adamts13vwf
|
|
adamts14
|
ADAM metallopeptidase with thrombospondin type 1 motif, 14|This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. This gene is highly similar to two family members, ADAMTS2 and ADAMTS3, in its sequence and gene structure, and the encoded protein shares the aminoprocollagen peptidase activity with the protein products encoded by ADAMTS2 and ADAMTS3. Various transcript variants of this gene have been identified. They result from the use of two different promoters and transcription initiation sites as well as alternative splicing sites. The full length nature of some transcripts has not been defined. [provided by RefSeq, Jul 2008]
|
adamts15
|
ADAM metallopeptidase with thrombospondin type 1 motif, 15|This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has a high sequence similarity to the proteins encoded by ADAMTS1 and ADAMTS8. [provided by RefSeq, Jul 2008]
|
adamts16
|
ADAM metallopeptidase with thrombospondin type 1 motif, 16|This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS18, another family member. [provided by RefSeq, Jul 2008]
|
adamts18
|
ADAM metallopeptidase with thrombospondin type 1 motif, 18|This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has a high sequence similarity to the protein encoded by gene ADAMTS16, another family member. It is thought to function as a tumor suppressor. Alternatively spliced transcript variants have been identified, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
|
adamts19
|
ADAM metallopeptidase with thrombospondin type 1 motif, 19|This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS16, another family member. [provided by RefSeq, Jul 2008]
|
adamts1mediated
|
|
adamts2
|
ADAM metallopeptidase with thrombospondin type 1 motif, 2|This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene excises the N-propeptide of type I, type II and type V procollagens. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
|
adamts4
|
ADAM metallopeptidase with thrombospondin type 1 motif, 4|This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene lacks a C-terminal TS motif. It is responsible for the degradation of aggrecan, a major proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The cleavage of aggrecan and brevican suggests key roles of this enzyme in arthritic disease and in the central nervous system, potentially, in the progression of glioma. [provided by RefSeq, Jul 2008]
|
adamts4v1
|
|
adamts5
|
ADAM metallopeptidase with thrombospondin type 1 motif, 5|This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains two C-terminal TS motifs and functions as aggrecanase to cleave aggrecan, a major proteoglycan of cartilage. [provided by RefSeq, Jul 2008]
|
adamts7
|
ADAM metallopeptidase with thrombospondin type 1 motif, 7|The protein encoded by this gene is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene contains two C-terminal TS motifs. [provided by RefSeq, Jul 2008]
|
adamts8
|
ADAM metallopeptidase with thrombospondin type 1 motif, 8|This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains two C-terminal TS motifs, and disrupts angiogenesis in vivo. A number of disorders have been mapped in the vicinity of this gene, most notably lung neoplasms. [provided by RefSeq, Jul 2008]
|
adamts9
|
ADAM metallopeptidase with thrombospondin type 1 motif, 9|This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors. [provided by RefSeq, Jul 2008]
|
adamts9as2
|
|
adamtsl2
|
ADAMTS-like 2|This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009]
|
adamtsl4
|
ADAMTS-like 4|This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Sep 2014]
|
adamtsl6beta
|
|
adamtslike
|
|
adap
|
|
adap1
|
ArfGAP with dual PH domains 1|
|
adapt
|
|
adaptability
|
|
adaptable
|
|
adaptation
|
|
adaptations
|
|
adaptative
|
|
adaptatively
|
|
adaptator
|
|
adapted
|
|
adapter
|
|
adapterlike
|
|
adapters
|
|
adapterscaffold
|
|
adaptin
|
|
adapting
|
|
adaption
|
|
adaptive
|
|
adaptively
|
|
adaptor
|
|
adaptorlike
|
|
adaptorrelated
|
|
adaptors
|
|
adaptorspecific
|
|
adapts
|
|
adar
|
adenosine deaminase, RNA-specific|This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
|
adar1
|
|
adar2
|
|
adars
|
|
adascid
|
|
adassociated
|
|
adbr2
|
|
adc
|
|
adca
|
|
adcc
|
Cytolysis of target cells by natural killer cells, eosinophils, neutrophils, monocytes, or macrophages following engagement of antibodies bound to the target cells by Fc receptors on the effector cells.
|
adck4
|
aarF domain containing kinase 4|This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
|
adcs
|
|
adcy2
|
adenylate cyclase 2 (brain)|This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This enzyme is insensitive to Ca(2+)/calmodulin, and is stimulated by the G protein beta and gamma subunit complex. [provided by RefSeq, Jul 2008]
|
adcy3
|
adenylate cyclase 3|This gene encodes adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This protein appears to be widely expressed in various human tissues and may be involved in a number of physiological and pathophysiological metabolic processes. [provided by RefSeq, Jul 2008]
|
adcy5
|
adenylate cyclase 5|This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
|
adcy6
|
adenylate cyclase 6|This gene encodes a member of the adenylyl cyclase family of proteins, which are required for the synthesis of cyclic AMP. All members of this family have an intracellular N-terminus, a tandem repeat of six transmembrane domains separated by a cytoplasmic loop, and a C-terminal cytoplasmic domain. The two cytoplasmic regions bind ATP and form the catalytic core of the protein. Adenylyl cyclases are important effectors of transmembrane signaling pathways and are regulated by the activity of G protein coupled receptor signaling. This protein belongs to a small subclass of adenylyl cyclase proteins that are functionally related and are inhibited by protein kinase A, calcium ions and nitric oxide. A mutation in this gene is associated with arthrogryposis multiplex congenita. [provided by RefSeq, May 2015]
|
adcy8
|
adenylate cyclase 8 (brain)|Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity of the catalytic subunit of the adenylyl cyclase [provided by RefSeq, Jul 2008]
|
adcyap1
|
adenylate cyclase activating polypeptide 1 (pituitary)|This gene encodes a secreted proprotein that is further processed into multiple mature peptides. These peptides stimulate adenylate cyclase and increase cyclic adenosine monophosphate (cAMP) levels, resulting in the transcriptional activation of target genes. The products of this gene are key mediators of neuroendocrine stress responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
|
add
|
|
add1
|
adducin 1 (alpha)|Adducins are a family of cytoskeleton proteins encoded by three genes (alpha, beta, gamma). Adducin is a heterodimeric protein that consists of related subunits, which are produced from distinct genes but share a similar structure. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Alpha- and gamma-adducins are ubiquitously expressed. In contrast, beta-adducin is expressed at high levels in brain and hematopoietic tissues. Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. Alternative splicing results in multiple variants encoding distinct isoforms; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
|
add2
|
adducin 2 (beta)|Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2010]
|
add3
|
adducin 3 (gamma)|Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008]
|
adddiction
|
|
added
|
|
addicted
|
|
addiction
|
Disorders related to substance abuse, the side effects of a medication, or toxin exposure.
|
addictionreview
|
|
addictions
|
|
addictive
|
|
addicts
|
|
adding
|
|
addison
|
|
addisons
|
|
addition
|
|
additional
|
|
additionally
|
|
additions
|
|
additive
|
|
additively
|
|
additives
|
|
additivism
|
|
additivity
|
|
addon
|
|
address
|
|
addressed
|
|
addresses
|
|
addressing
|
|
adds
|
|
adducin
|
|
adducins
|
|
adduct
|
|
adductcontaining
|
|
adducted
|
|
adduction
|
|
adducts
|
|
ade
|
|
adecatumumab
|
|
adeficient
|
|
adefovir
|
|
adehesiveness
|
|
adem
|
|
ademoma
|
|
adenine
|
|
adeninerich
|
|
adenines
|
|
adenineuridinerich
|
|
adeninguanine
|
|
adenitis
|
|
adenoassociated
|
|
adenocarcinoa
|
|
adenocarcinogenesis
|
|
adenocarcinom
|
|
adenocarcinoma
|
A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures.|A malignant epithelial tumor with a glandular organization.
|
adenocarcinomaassociated
|
|
adenocarcinomaderived
|
|
adenocarcinomagenesis
|
|
adenocarcinomainitiating
|
|
adenocarcinomaprevalent
|
|
adenocarcinomas
|
A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures.|A malignant epithelial tumor with a glandular organization.
|
adenocarcinomathis
|
|
adenocarcinomato
|
|
adenocarcioma
|
|
adenocarconima
|
|
adenocarinoma
|
|
adenocarinomas
|
|
adenocystic
|
|
adenohypophyseal
|
|
adenoid
|
An enlarged mass of lymphoid tissue at the back of the pharynx characteristically obstructing breathing.
|
adenoidal
|
|
adenoids
|
|
adenoma
|
A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.|A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.
|
adenomaadenocarcinoma
|
|
adenomacarcinoma
|
|
adenomapolyps
|
|
adenomas
|
A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.|A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.
|
adenomatoid
|
|
adenomatosis
|
|
adenomatous
|
|
adenomyoma
|
A carcinosarcoma that has_material_basis_in gland and muscle components.
|
adenomyosis
|
|
adenomyosisassociated
|
|
adenomyotic
|
|
adenopathy
|
|
adenosine
|
A ribonucleoside composed of a molecule of adenine attached to a ribofuranose moiety via a beta-N(9)-glycosidic bond.
|
adenosine35diphosphate
|
|
adenosinea3
|
|
adenosinedependent
|
|
adenosineelicited
|
|
adenosineinduced
|
|
adenosinemediated
|
|
adenosineproducing
|
|
adenosinerelated
|
|
adenosinergic
|
|
adenosinestimulated
|
|
adenosineuridine
|
|
adenosineuridinerich
|
|
adenosquamous
|
|
adenosylcobalamin
|
|
adenosyltransferase
|
|
adenotonsillar
|
|
adenoviral
|
|
adenoviralinfected
|
|
adenoviralmediated
|
|
adenovirus
|
|
adenoviruscontaining
|
|
adenovirusdelivered
|
|
adenoviruses
|
|
adenovirusinduced
|
|
adenovirusinfected
|
|
adenovirusmediated
|
|
adenovirusp53
|
|
adenovirusreic
|
|
adenovirustransformed
|
|
adenyl
|
|
adenylate
|
|
adenylated
|
|
adenylation
|
|
adenylosuccinate
|
|
adenylyl
|
|
adenylyltransferase
|
|
adenylyltransferases
|
|
adeoncarcinoma
|
|
adependent
|
|
adequacy
|
|
adequate
|
|
adequately
|
|
adf
|
|
adfakcdinduced
|
|
adfcofilin
|
|
adfcofilin1dependent
|
|
adfp
|
|
adh
|
|
adh1
|
|
adh1a
|
alcohol dehydrogenase 1A (class I), alpha polypeptide|This gene encodes a member of the alcohol dehydrogenase family. The encoded protein is the alpha subunit of class I alcohol dehydrogenase, which consists of several homo- and heterodimers of alpha, beta and gamma subunits. Alcohol dehydrogenases catalyze the oxidation of alcohols to aldehydes. This gene is active in the liver in early fetal life but only weakly active in adult liver. This gene is found in a cluster with six additional alcohol dehydrogenase genes, including those encoding the beta and gamma subunits, on the long arm of chromosome 4. Mutations in this gene may contribute to variation in certain personality traits and substance dependence. [provided by RefSeq, Nov 2010]
|
adh1b
|
alcohol dehydrogenase 1B (class I), beta polypeptide|The protein encoded by this gene is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This encoded protein, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
|
adh1b11
|
|
adh1b2
|
|
adh1badh1cadh7
|
|
adh1baldh2
|
|
adh1c
|
|
adh1c11
|
|
adh1c12
|
|
adh1c22
|
|
adh1c22mthfr
|
|
adh2
|
|
adh21
|
|
adh22
|
|
adh3
|
|
adh31
|
|
adh32
|
|
adh4
|
alcohol dehydrogenase 4 (class II), pi polypeptide|This gene encodes class II alcohol dehydrogenase 4 pi subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class II alcohol dehydrogenase is a homodimer composed of 2 pi subunits. It exhibits a high activity for oxidation of long-chain aliphatic alcohols and aromatic alcohols and is less sensitive to pyrazole. This gene is localized to chromosome 4 in the cluster of alcohol dehydrogenase genes. [provided by RefSeq, Jul 2008]
|
adh5
|
alcohol dehydrogenase 5 (class III), chi polypeptide|This gene encodes a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The encoded protein forms a homodimer. It has virtually no activity for ethanol oxidation, but exhibits high activity for oxidation of long-chain primary alcohols and for oxidation of S-hydroxymethyl-glutathione, a spontaneous adduct between formaldehyde and glutathione. This enzyme is an important component of cellular metabolism for the elimination of formaldehyde, a potent irritant and sensitizing agent that causes lacrymation, rhinitis, pharyngitis, and contact dermatitis. The human genome contains several non-transcribed pseudogenes related to this gene. [provided by RefSeq, Oct 2008]
|
adh7
|
alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide|This gene encodes class IV alcohol dehydrogenase 7 mu or sigma subunit, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The enzyme encoded by this gene is inefficient in ethanol oxidation, but is the most active as a retinol dehydrogenase; thus it may participate in the synthesis of retinoic acid, a hormone important for cellular differentiation. The expression of this gene is much more abundant in stomach than liver, thus differing from the other known gene family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
|
adhd
|
A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-IV)
|
adhdct
|
|
adhdi
|
|
adhdwith
|
|
adhere
|
|
adhered
|
|
adherence
|
|
adherens
|
|
adherent
|
|
adherentinvasive
|
|
adherents
|
|
adhering
|
|
adhesin
|
|
adhesion
|
|
adhesionaggregation
|
|
adhesionassociated
|
|
adhesioncomplex
|
|
adhesiondependent
|
|
adhesiongrowthdependent
|
|
adhesionindependent
|
|
adhesioninduced
|
|
adhesioninducing
|
|
adhesionlocalized
|
|
adhesionmediated
|
|
adhesionmigration
|
|
adhesionrelated
|
|
adhesions
|
|
adhesionsignaling
|
|
adhesionsurvival
|
|
adhesiontargeting
|
|
adhesios
|
|
adhesive
|
|
adhesiveness
|
|
adhf
|
|
adhmediated
|
|
adhsp
|
|
adhu5apoptin
|
|
adhx9
|
|
adiopr1
|
|
adiose
|
|
adipo
|
|
adipocyte
|
One of the fat-laden cells making up adipose tissue.
|
adipocytederived
|
|
adipocytelike
|
|
adipocytes
|
|
adipocytespecific
|
|
adipocytic
|
|
adipocytokine
|
|
adipocytokines
|
|
adipogenesis
|
The process whose specific outcome is the progression of adipose tissue over time, from its formation to the mature structure. Adipose tissue is specialized tissue that is used to store fat.
|
adipogenesisdependent
|
|
adipogenic
|
|
adipoimmune
|
|
adipoinsular
|
|
adipokine
|
|
adipokines
|
|
adiponectin
|
|
adiponectinemia
|
|
adiponectinil10
|
|
adiponectininduced
|
|
adiponectinleptin
|
|
adiponectinmediated
|
|
adiponectinregulated
|
|
adiponectinresistin
|
|
adiponectins
|
|
adiponectinstimulated
|
|
adiponectinsuggesting
|
|
adiponectintcadherin
|
|
adiponectintoleptin
|
|
adiponection
|
|
adiponectionleptin
|
|
adiponutrin
|
|
adiponutrinpnpla3
|
|
adipophilin
|
|
adipoq
|
adiponectin, C1Q and collagen domain containing|This gene is expressed in adipose tissue exclusively. It encodes a protein with similarity to collagens X and VIII and complement factor C1q. The encoded protein circulates in the plasma and is involved with metabolic and hormonal processes. Mutations in this gene are associated with adiponectin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Apr 2010]
|
adipor
|
|
adipor1
|
adiponectin receptor 1|This gene encodes a protein which acts as a receptor for adiponectin, a hormone secreted by adipocytes which regulates fatty acid catabolism and glucose levels. Binding of adiponectin to the encoded protein results in activation of an AMP-activated kinase signaling pathway which affects levels of fatty acid oxidation and insulin sensitivity. A pseudogene of this gene is located on chromosome 14. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2014]
|
adipor12
|
|
adipor1adipor2
|
|
adipor1adipor2appl1
|
|
adipor1dependent
|
|
adipor1independent
|
|
adipor1r2
|
|
adipor1specific
|
|
adipor2
|
adiponectin receptor 2|The adiponectin receptors, ADIPOR1 (MIM 607945) and ADIPOR2, serve as receptors for globular and full-length adiponectin (MIM 605441) and mediate increased AMPK (see MIM 602739) and PPAR-alpha (PPARA; MIM 170998) ligand activities, as well as fatty acid oxidation and glucose uptake by adiponectin (Yamauchi et al., 2003 [PubMed 12802337]).[supplied by OMIM, Mar 2008]
|
adipor2play
|
|
adipose
|
|
adiposederived
|
|
adiposeliver
|
|
adiposetissue
|
|
adiposity
|
An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher.|A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).
|
adiposityrelated
|
|
adiposomes
|
|
adipsin
|
|
adirf3
|
|
adjacent
|
|
adjacently
|
|
adjhr185
|
|
adjhr244
|
|
adjoining
|
|
adjudicated
|
|
adjunct
|
|
adjunctive
|
|
adjuncts
|
|
adjust
|
|
adjustable
|
|
adjusted
|
|
adjusting
|
|
adjustment
|
|
adjustments
|
|
adjusts
|
|
adjuvant
|
|
adjuvants
|
|
adl
|
|
adld
|
|
adlike
|
|
adlte
|
|
adm
|
adrenomedullin|The protein encoded by this gene is a preprohormone which is cleaved to form two biologically active peptides, adrenomedullin and proadrenomedullin N-terminal 20 peptide. Adrenomedullin is a 52 aa peptide with several functions, including vasodilation, regulation of hormone secretion, promotion of angiogenesis, and antimicrobial activity. The antimicrobial activity is antibacterial, as the peptide has been shown to kill E. coli and S. aureus at low concentration. [provided by RefSeq, Aug 2014]
|
adma
|
|
admaindependent
|
|
admainduced
|
|
admidas
|
|
administered
|
|
administering
|
|
administration
|
|
administrationapproved
|
|
admission
|
|
admissions
|
|
admitted
|
|
admixed
|
|
admixture
|
|
admp
|
|
admr
|
|
admscs
|
|
adn
|
|
adnd
|
|
adnexa
|
|
adnexal
|
|
adnfle
|
|
adnos1
|
|
adnos3
|
|
adnp
|
activity-dependent neuroprotector homeobox|Vasoactive intestinal peptide is a neuroprotective factor that has a stimulatory effect on the growth of some tumor cells and an inhibitory effect on others. This gene encodes a protein that is upregulated by vasoactive intestinal peptide and may be involved in its stimulatory effect on certain tumor cells. The encoded protein contains one homeobox and nine zinc finger domains, suggesting that it functions as a transcription factor. This gene is also upregulated in normal proliferative tissues. Finally, the encoded protein may increase the viability of certain cell types through modulation of p53 activity. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
|
adnp2
|
ADNP homeobox 2|
|
adnrf2
|
|
adnshl
|
|
adoa
|
|
adocbl
|
|
adohcy
|
|
adolescence
|
|
adolescent
|
|
adolescents
|
|
adolescentsdrinking
|
|
adolescentsyoung
|
|
adolscent
|
|
adomain
|
|
adomet
|
|
adometdc
|
|
adopt
|
|
adopted
|
|
adopting
|
|
adoption
|
|
adoptive
|
|
adoptively
|
|
adopts
|
|
adora1
|
adenosine A1 receptor|The protein encoded by this gene is an adenosine receptor that belongs to the G-protein coupled receptor 1 family. There are 3 types of adenosine receptors, each with a specific pattern of ligand binding and tissue distribution, and together they regulate a diverse set of physiologic functions. The type A1 receptors inhibit adenylyl cyclase, and play a role in the fertilization process. Animal studies also suggest a role for A1 receptors in kidney function and ethanol intoxication. Transcript variants with alternative splicing in the 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]
|
adora2a
|
adenosine A2a receptor|This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily, which is subdivided into classes and subtypes. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein, an adenosine receptor of A2A subtype, uses adenosine as the preferred endogenous agonist and preferentially interacts with the G(s) and G(olf) family of G proteins to increase intracellular cAMP levels. It plays an important role in many biological functions, such as cardiac rhythm and circulation, cerebral and renal blood flow, immune function, pain regulation, and sleep. It has been implicated in pathophysiological conditions such as inflammatory diseases and neurodegenerative disorders. Alternative splicing results in multiple transcript variants. A read-through transcript composed of the upstream SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]
|
adora2b
|
adenosine A2b receptor|This gene encodes an adenosine receptor that is a member of the G protein-coupled receptor superfamily. This integral membrane protein stimulates adenylate cyclase activity in the presence of adenosine. This protein also interacts with netrin-1, which is involved in axon elongation. The gene is located near the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
|
adp
|
A purine ribonucleoside 5'-diphosphate having adenine as the nucleobase.
|
adpactin
|
|
adpactivated
|
|
adpathology
|
|
adpatp
|
|
adpbinding
|
Interacting selectively and non-covalently with ADP, adenosine 5'-diphosphate.
|
adpbound
|
|
adpdependent
|
|
adpinduced
|
|
adpkd
|
|
adpkinesin
|
|
adpmediated
|
|
adpmutsalphaatp
|
|
adppotentiation
|
|
adpr
|
|
adpr1
|
|
adpribose
|
|
adpribosyl
|
|
adpribosylated
|
|
adpribosylating
|
|
adpribosylation
|
|
adpribosyltransferase
|
|
adpribosyltransferases
|
|
adprotective
|
|
adprt
|
|
adprt1
|
|
adprtxrcc1
|
|
adpstimulated
|
|
adpten
|
|
adpttg
|
|
adpunc104
|
|
adr
|
|
adra1a
|
adrenoceptor alpha 1A|Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1A-adrenergic receptor. Alternative splicing of this gene generates four transcript variants, which encode four different isoforms with distinct C-termini but having similar ligand binding properties. [provided by RefSeq, Jul 2008]
|
adra1c
|
|
adra1d
|
adrenoceptor alpha 1D|Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1D-adrenergic receptor. Similar to alpha-1B-adrenergic receptor gene, this gene comprises 2 exons and a single intron that interrupts the coding region. [provided by RefSeq, Jul 2008]
|
adra2a
|
adrenoceptor alpha 2A|Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. Studies in mouse revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons; the alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes alpha2A subtype and it contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008]
|
adra2b
|
adrenoceptor alpha 2B|This intronless gene encodes a seven-pass transmembrane protein. This protein is a member of a subfamily of G protein-coupled receptors that regulate neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. [provided by RefSeq, Apr 2014]
|
adra2c
|
adrenoceptor alpha 2C|Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. The mouse studies revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons. The alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes the alpha2C subtype, which contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008]
|
adrb1
|
adrenoceptor beta 1|The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq, Jul 2008]
|
adrb12
|
|
adrb2
|
adrenoceptor beta 2, surface|This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled receptor superfamily. This receptor is directly associated with one of its ultimate effectors, the class C L-type calcium channel Ca(V)1.2. This receptor-channel complex also contains a G protein, an adenylyl cyclase, cAMP-dependent kinase, and the counterbalancing phosphatase, PP2A. The assembly of the signaling complex provides a mechanism that ensures specific and rapid signaling by this G protein-coupled receptor. This gene is intronless. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity and type 2 diabetes. [provided by RefSeq, Jul 2008]
|
adrb2elucc
|
|
adrb2rs1800888thr164ile
|
|
adrb2tlr2
|
|
adrb3
|
adrenoceptor beta 3|The protein encoded by this gene belongs to the family of beta adrenergic receptors, which mediate catecholamine-induced activation of adenylate cyclase through the action of G proteins. This receptor is located mainly in the adipose tissue and is involved in the regulation of lipolysis and thermogenesis. [provided by RefSeq, Feb 2009]
|
adrbeta2
|
|
adrbk2
|
adrenergic, beta, receptor kinase 2|The beta-adrenergic receptor kinase specifically phosphorylates the agonist-occupied form of the beta-adrenergic and related G protein-coupled receptors. Overall, the beta adrenergic receptor kinase 2 has 85% amino acid similarity with beta adrenergic receptor kinase 1, with the protein kinase catalytic domain having 95% similarity. These data suggest the existence of a family of receptor kinases which may serve broadly to regulate receptor function. [provided by RefSeq, Jul 2008]
|
adrelated
|
|
adrenal
|
|
adrenalectomy
|
|
adrenaline
|
A catecholamine in which the aminoethyl side-chain is hydroxy-substituted at C-1 and methylated on nitrogen.
|
adrenals
|
|
adrenarche
|
|
adrenergic
|
|
adrenoceptor
|
|
adrenoceptors
|
|
adrenocortical
|
|
adrenocorticotropic
|
|
adrenocorticotropinproducing
|
|
adrenodoxin
|
|
adrenoleukodystrophy
|
A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.
|
adrenomedullary
|
|
adrenomedullin
|
|
adrenomedullinadrenomedullin
|
|
adrenomedullinevoked
|
|
adrenomedullinramp2
|
|
adrenomyeloneuropathy
|
|
adrenopeptidergic
|
|
adrenoreceptor
|
|
adrenoreceptors
|
|
adriamycin
|
|
adriamycininduced
|
|
adriamycinresistant
|
|
adriven
|
|
adrm1
|
adhesion regulating molecule 1|This gene encodes a member of the adhesion regulating molecule 1 protein family. The encoded protein is a component of the proteasome where it acts as a ubiquitin receptor and recruits the deubiquitinating enzyme, ubiquitin carboxyl-terminal hydrolase L5. Increased levels of the encoded protein are associated with increased cell adhesion, which is likely an indirect effect of this intracellular protein. Dysregulation of this gene has been implicated in carcinogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
adrp
|
|
adrpperilipin
|
|
adrs
|
|
ads
|
|
adsc
|
|
adscs
|
|
adscscm
|
|
adsl
|
adenylosuccinate lyase|Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate. It catalyzes two reactions in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to give AMP. Adenylosuccinase deficiency results in succinylpurinemic autism, psychomotor retardation, and , in some cases, growth retardation associated with muscle wasting and epilepsy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
adsorb
|
|
adsorbed
|
|
adsorption
|
|
adsorptioninduced
|
|
adss
|
adenylosuccinate synthase|This gene encodes the enzyme adenylosuccinate synthetase which catalyzes the first committed step in the conversion of inosine monophosphate to adenosine monophosphate. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Nov 2010]
|
adt
|
|
adtrp
|
androgen-dependent TFPI-regulating protein|
|
aduckhubeil12004
|
|
adult
|
Fully developed and mature: GROWN-UP.
|
adulthood
|
|
adultlike
|
|
adultonset
|
|
adults
|
|
adulttype
|
|
advance
|
|
advanced
|
|
advancedmetastatic
|
|
advancedstage
|
|
advancement
|
|
advancements
|
|
advances
|
|
advancing
|
|
advantage
|
|
advantagedisadvantage
|
|
advantageous
|
|
advantageously
|
|
advantages
|
|
advent
|
|
adventitia
|
|
adventitial
|
|
adventitias
|
|
adventitious
|
|
adverse
|
|
adversely
|
|
adversities
|
|
adversity
|
|
advillin
|
|
advisable
|
|
advised
|
|
advocate
|
|
advocated
|
|
advocates
|
|
ae1
|
|
ae1slc4a1band
|
|
ae2
|
|
aea
|
|
aeblex
|
|
aebox
|
|
aebsf
|
|
aec
|
|
aeca
|
|
aecdk2
|
|
aeciis
|
|
aecpatient
|
|
aecs
|
|
aeds
|
|
aee788
|
|
aeg1
|
|
aeg1akt2
|
|
aeg1mtdh
|
|
aegean
|
|
aegfr
|
|
aej
|
|
ael
|
|
aemerin
|
|
aen
|
apoptosis enhancing nuclease|
|
aeolicus
|
|
aep
|
|
aerd
|
|
aerobic
|
|
aerodigestive
|
|
aeromonas
|
|
aeruginosa
|
|
aeruginosadependent
|
|
aeruginosainduced
|
|
aes
|
amino-terminal enhancer of split|The protein encoded by this gene is similar in sequence to the amino terminus of Drosophila enhancer of split groucho, a protein involved in neurogenesis during embryonic development. The encoded protein, which belongs to the groucho/TLE family of proteins, can function as a homooligomer or as a heteroologimer with other family members to dominantly repress the expression of other family member genes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
aesilenced
|
|
aetfc
|
|
aetiological
|
|
aetiologies
|
|
aetiology
|
|
aetiopathogenesis
|
|
aetiopathology
|
|
aettreated
|
|
aexu
|
|
af1
|
|
af10
|
|
af10mediated
|
|
af15q14
|
|
af17
|
|
af1mediated
|
|
af1q
|
|
af2
|
|
af2dependent
|
|
af4
|
|
af4dependent
|
|
af4mll
|
|
af6
|
|
af6afadin
|
|
af6pdz
|
|
af9
|
|
af9dot1l
|
|
afabp
|
|
afabp4
|
|
afabpap2
|
|
afadin
|
|
afadr
|
|
afap
|
|
afap1
|
actin filament associated protein 1|The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
|
afap110
|
|
afap1l1
|
actin filament associated protein 1-like 1|
|
afatinib
|
A quinazoline compound having a 3-chloro-4-fluoroanilino group at the 4-position, a 4-dimethylamino-trans-but-2-enamido group at the 6-position, and an (S)-tetrahydrofuran-3-yloxy group at the 7-position. Used (as its dimaleate salt) for the first-line treatment of patients with metastatic non-small cell lung cancer.
|
afb1
|
|
afb1related
|
|
afbn
|
|
afebrile
|
|
aff1
|
AF4/FMR2 family, member 1|
|
aff234
|
|
aff3
|
AF4/FMR2 family, member 3|This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 gene family of nuclear transcription factors that may function in lymphoid development and oncogenesis. In some ALL patients, this gene has been found fused to the gene for MLL. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]
|
affect
|
|
affectd
|
|
affected
|
|
affectedcd44
|
|
affecteds
|
|
affecting
|
|
affection
|
|
affective
|
|
affects
|
|
afferent
|
|
afferents
|
|
affibody
|
|
affiliation
|
|
affiliative
|
|
affin
|
|
affinities
|
|
affinity
|
|
affinityregulating
|
|
affirm
|
|
affirms
|
|
affixin
|
|
afflicted
|
|
afford
|
|
affordable
|
|
afforded
|
|
affords
|
|
affymetrix
|
|
afg3l2
|
AFG3-like AAA ATPase 2|This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008]
|
afg3l2spg7paraplegin
|
|
afgf
|
|
afghanistan
|
|
afibrinogenemia
|
|
aflatoxin
|
Any of a group of related and highly toxic secondary metabolites (mycotoxins) whose main structural feature is a fused coumarin-bis(dihydrofuran) ring system and which are produced by strains of the moulds Aspergillus flavus or A. parasiticus, together with further metabolites of these mycotoxins
|
aflibercept
|
|
afm
|
|
aforementioned
|
|
afp
|
alpha-fetoprotein|This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatoma or teratoma. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly. [provided by RefSeq, Jul 2008]
|
afp4655
|
|
afpl3
|
|
afpnegative
|
|
afpproducing
|
|
afpr
|
|
afpromoting
|
|
africa
|
|
african
|
Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excudes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity.
|
africanamerican
|
A term used in the United States to categorize a population group comprised of persons having origins in any of the black racial groups of Africa. Includes population subgroups (e.g., Kenyan, Nigerian, Haitian). The concept refers also to individuals who classify themselves as described.
|
africanamericans
|
|
africanbrazilian
|
|
africanbrazilians
|
|
africanderived
|
|
africans
|
|
africansbutstill
|
|
afrobrazilian
|
|
afrocaribbean
|
|
afrocaribbeans
|
|
afrs
|
|
afs
|
|
afsc
|
|
after
|
|
afterdepolarizations
|
|
afterdepolarizationstriggered
|
|
afterhyperpolarization
|
|
afterload
|
|
afternoon
|
|
aftiphilingammasynergin
|
|
aftiphilinp200gammasynergin
|
|
afu
|
|
afx
|
|
ag1478
|
|
ag49
|
|
ag490
|
|
ag73
|
|
aga
|
aspartylglucosaminidase|Aspartylglucosaminidase is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. The lysosomal storage disease aspartylglycosaminuria is caused by a deficiency in the AGA enzyme. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jan 2010]
|
agaa
|
|
agab
|
|
agac
|
|
again
|
|
agains
|
|
against
|
|
againstas
|
|
agalactiae
|
|
agamma
|
|
agamma201
|
|
agammaglobin
|
|
agammaglobulinemia
|
A B cell deficiency that is caused by a reduction in all types of gamma globulins.
|
agammapromoterdriven
|
|
aganglionic
|
|
aganglionosis
|
|
agap2
|
ArfGAP with GTPase domain, ankyrin repeat and PH domain 2|The protein encoded by this gene belongs to the centaurin gamma-like family. It mediates anti-apoptotic effects of nerve growth factor by activating nuclear phosphoinositide 3-kinase. It is overexpressed in cancer cells, and promotes cancer cell invasion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
|
agar
|
|
agaritine
|
|
agarose
|
|
agarwal
|
|
agat
|
|
agbl1
|
ATP/GTP binding protein-like 1|Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013]
|
agbl2
|
ATP/GTP binding protein-like 2|
|
agc
|
|
agc1
|
|
agcontaininguridinerich
|
|
agdriven
|
|
age
|
A temporal measurement of the time period elapsed since an identifiable point in the life cycle of an organism. If a developmental stage is specified, the identifiable point would be the beginning of that stage. Otherwise the identifiable point must be specified such as planting (e.g. 3 days post planting).
|
age3
|
|
ageadjusted
|
|
agean
|
|
ageassociated
|
|
ageatdiagnosisonset
|
|
ageatonset
|
The age at which some process, or disease started in a human individual.
|
agebmimatched
|
|
agebsa
|
|
aged
|
|
agedependent
|
|
ageincidence
|
|
ageinduced
|
|
ageing
|
A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death (GO:0016265) and may succeed developmental maturation (GO:0021700).
|
ageingrelated
|
|
agematched
|
|
agemodified
|
|
agenesis
|
|
agent
|
|
agentinduced
|
|
agents
|
|
agentsinduced
|
|
ageofonset
|
|
ageproteins
|
|
ager
|
advanced glycosylation end product-specific receptor|The advanced glycosylation end product (AGE) receptor encoded by this gene is a member of the immunoglobulin superfamily of cell surface receptors. It is a multiligand receptor, and besides AGE, interacts with other molecules implicated in homeostasis, development, and inflammation, and certain diseases, such as diabetes and Alzheimer's disease. Many alternatively spliced transcript variants encoding different isoforms, as well as non-protein-coding variants, have been described for this gene (PMID:18089847). [provided by RefSeq, May 2011]
|
ager1
|
|
agerage
|
|
agerageinduced
|
|
ageragerelated
|
|
agerelated
|
|
ages
|
|
agespecific
|
|
agespecifically
|
|
agesrage
|
|
agexperienced
|
|
agg
|
|
aggc
|
|
aggf1
|
angiogenic factor with G patch and FHA domains 1|This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided by RefSeq, Sep 2010]
|
aggg
|
|
agglutination
|
|
agglutinin
|
|
aggravate
|
|
aggravated
|
|
aggravates
|
|
aggravating
|
|
aggravation
|
|
aggrecan
|
|
aggrecanase
|
|
aggrecanase1
|
|
aggrecanases
|
|
aggregability
|
|
aggregate
|
|
aggregatecentered
|
|
aggregated
|
|
aggregates
|
|
aggregatibacter
|
|
aggregating
|
|
aggregation
|
|
aggregationprone
|
|
aggregations
|
|
aggregative
|
|
aggregatory
|
|
aggresive
|
|
aggresome
|
An inclusion body formed by dynein-dependent retrograde transport of an aggregated protein on microtubules.
|
aggresomelike
|
|
aggresomes
|
|
aggresometargeting
|
|
aggression
|
A behavioral interaction between organisms in which one organism has the intention of inflicting physical damage on another individual.
|
aggressionrelated
|
|
aggressive
|
|
aggressiveimpulsive
|
|
aggressively
|
|
aggressiveness
|
|
aggressivity
|
|
aggt
|
|
aggtca
|
|
agindependent
|
|
aging
|
A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death (GO:0016265) and may succeed developmental maturation (GO:0021700).
|
agingassociated
|
|
agingdelaying
|
|
agingdependent
|
|
agingprone
|
|
agingrelated
|
|
agitation
|
|
agk
|
acylglycerol kinase|The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. [provided by RefSeq, Feb 2012]
|
agl
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase|This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
|
agldl
|
|
agldllrp1
|
|
aglycone
|
|
agm
|
Region where blood progenitor markers are expressed. Probable site of definitive hematopoiesis between 36hpf and 4dpf.
|
agmatinase
|
|
agmatine
|
A primary amino compound that has formula C5H14N4.
|
agmediated
|
|
agn
|
|
agnoprotein
|
|
agnor
|
|
ago
|
|
ago1
|
argonaute RISC catalytic component 1|This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of closely related family members including argonaute 3, and argonaute 4. [provided by RefSeq, Jul 2008]
|
ago1gw182
|
|
ago2
|
argonaute RISC catalytic component 2|This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
|
ago2cleaved
|
|
ago2f2v2
|
|
ago2nicked
|
|
ago2slicerdependent
|
|
ago3
|
argonaute RISC catalytic component 3|This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, contains a PAZ domain and a PIWI domain, and may play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a tandem cluster of closely related family members including argonaute 4 and eukaryotic translation initiation factor 2C, 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
|
ago3dependent
|
|
ago4
|
argonaute RISC catalytic component 4|This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic containing PAZ and PIWI domains, and it may play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of closely related family members including argonaute 3, and eukaryotic translation initiation factor 2C, 1. [provided by RefSeq, Jul 2008]
|
agomir
|
|
agonism
|
|
agonist
|
|
agonistactivated
|
|
agonistantagonist
|
|
agonistbinding
|
|
agonistbound
|
|
agonistdependent
|
|
agonistenhanced
|
|
agonistevoked
|
|
agonistfxr
|
|
agonistic
|
|
agonistindependent
|
|
agonistinduced
|
|
agonistmediated
|
|
agonistoccupied
|
|
agonistpromoted
|
|
agonistreceptor
|
|
agonists
|
|
agonistselective
|
|
agonistspecific
|
|
agoniststimulated
|
|
agoraphobia
|
A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable.
|
agouti
|
|
agoutirelated
|
|
agp
|
|
agpat1
|
1-acylglycerol-3-phosphate O-acyltransferase 1|This gene encodes an enzyme that converts lysophosphatidic acid (LPA) into phosphatidic acid (PA). LPA and PA are two phospholipids involved in signal transduction and in lipid biosynthesis in cells. This enzyme localizes to the endoplasmic reticulum. This gene is located in the class III region of the human major histocompatibility complex. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
|
agpat2
|
1-acylglycerol-3-phosphate O-acyltransferase 2|This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
|
agpat3
|
1-acylglycerol-3-phosphate O-acyltransferase 3|The protein encoded by this gene is an acyltransferase that converts lysophosphatidic acid into phosphatidic acid, which is the second step in the de novo phospholipid biosynthetic pathway. The encoded protein may be an integral membrane protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
|
agpat5
|
1-acylglycerol-3-phosphate O-acyltransferase 5|This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. A pseudogene of this gene is present on the Y chromosome. [provided by RefSeq, Aug 2014]
|
agpresenting
|
|
agr
|
|
agr2
|
anterior gradient 2|
|
agranulocytosis
|
|
agree
|
|
agreeableness
|
|
agreed
|
|
agreement
|
|
agreements
|
|
agrees
|
|
agressive
|
|
agressiveness
|
|
agricultural
|
|
agrin
|
|
agrinindependent
|
|
agrinmusk
|
|
agrinstimulated
|
|
agrnas
|
|
agrp
|
agouti related neuropeptide|This gene encodes an antagonist of the melanocortin-3 and melanocortin-4 receptor. It appears to regulate hypothalamic control of feeding behavior via melanocortin receptor and/or intracellular calcium regulation, and thus plays a role in weight homeostasis. Mutations in this gene have been associated with late on-set obesity. [provided by RefSeq, Dec 2009]
|
ags
|
|
ags1
|
|
ags3
|
|
ags3galphai2
|
|
agspecific
|
|
agstimulated
|
|
agt
|
angiotensinogen (serpin peptidase inhibitor, clade A, member 8)|The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease. [provided by RefSeq, Jul 2008]
|
agtr1
|
angiotensin II receptor, type 1|Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. This gene may play a role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene, denoted as AGTR1B, existed; however, it is now believed that there is only one type 1 receptor gene in humans. Multiple alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Jul 2012]
|
agtr13utr
|
|
agtr1accc
|
|
agtr1c573t
|
|
agtr2
|
angiotensin II receptor, type 2|The protein encoded by this gene belongs to the G-protein coupled receptor 1 family, and functions as a receptor for angiotensin II. It is an intergral membrane protein that is highly expressed in fetus, but scantily in adult tissues, except brain, adrenal medulla, and atretic ovary. This receptor has been shown to mediate programmed cell death and this apoptotic function may play an important role in developmental biology and pathophysiology. Mutations in this gene are been associated with X-linked mental retardation. [provided by RefSeq, Jan 2010]
|
agtrl1
|
|
aguag
|
|
agvhd
|
|
agvhdgrade
|
|
agxt
|
alanine-glyoxylate aminotransferase|This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008]
|
agxtproiileu
|
|
ah1n1
|
|
ah1n1pdm09
|
|
ah2
|
|
aha1
|
|
aha1hsp90
|
|
ahc
|
|
ahead
|
|
ahf
|
|
ahi1
|
Abelson helper integration site 1|This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
|
ahnak
|
AHNAK nucleoprotein|
|
ahnak1
|
|
aholes
|
|
aholike
|
|
ahong
|
|
ahr
|
aryl hydrocarbon receptor|This gene encodes a ligand-activated transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons. This receptor has been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. Its ligands included a variety of aromatic hydrocarbons. [provided by RefSeq, Jul 2008]
|
ahrarnt
|
|
ahraryl
|
|
ahrdependent
|
|
ahre5
|
|
ahreralpha
|
|
ahrmediated
|
|
ahrr
|
aryl-hydrocarbon receptor repressor|The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a feedback modulator by repressing AhR-dependent gene expression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]
|
ahrrarnt
|
|
ahrrncoa2
|
|
ahrsignaling
|
|
ahsct
|
|
ahsg
|
alpha-2-HS-glycoprotein|Alpha2-HS glycoprotein (AHSG), a glycoprotein present in the serum, is synthesized by hepatocytes. The AHSG molecule consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several functions, such as endocytosis, brain development and the formation of bone tissue. The protein is commonly present in the cortical plate of the immature cerebral cortex and bone marrow hemopoietic matrix, and it has therefore been postulated that it participates in the development of the tissues. However, its exact significance is still obscure. [provided by RefSeq, Jul 2008]
|
ahsp
|
alpha hemoglobin stabilizing protein|
|
ahspalphahb
|
|
aht
|
|
ahus
|
|
ahusassociated
|
|
ahve
|
|
ahyperactivation
|
|
aia
|
|
aiabca1dependent
|
|
aib1
|
|
aib1and
|
|
aib1delta3
|
|
aib1delta4
|
|
aib1dependent
|
|
aib1src3
|
|
aib1targeted
|
|
aibp
|
|
aicar
|
|
aicardigoutieres
|
|
aicaribosiduria
|
|
aicd
|
|
aicda
|
activation-induced cytidine deaminase|This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. The protein is involved in somatic hypermutation, gene conversion, and class-switch recombination of immunoglobulin genes. Defects in this gene are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). [provided by RefSeq, Feb 2009]
|
aicdadependent
|
|
aicdatargeted
|
|
aicdfe65tip60
|
|
aichi
|
|
aiclexpressing
|
|
aid
|
|
aida1
|
|
aida1c
|
|
aiddependent
|
|
aide
|
|
aided
|
|
aiderived
|
|
aidinduced
|
|
aiding
|
|
aidl
|
|
aidmediated
|
|
aids
|
A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin's lymphoma and Kaposi's sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood.|An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993.|A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin's lymphoma and Kaposi's sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood. -- 2004|Acquired immunodeficiency syndrome is a HIV infection consisting of a disease of the human immune system that is characterized cytologically especially by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse.|An HIV infectious disease that is a characterized cytologically by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse.|A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin's lymphoma and Kaposi's sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood.|A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.
|
aidsassociated
|
|
aidsrelated
|
|
aif
|
|
aif1
|
allograft inflammatory factor 1|This gene is induced by cytokines and interferon. Its protein product is thought to be involved in negative regulation of growth of vascular smooth muscle cells, which contributes to the anti-inflammatory response to vessel wall trauma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
|
aifcypa
|
|
aifdependent
|
|
aifendogdependent
|
|
aifindependent
|
|
aifm1
|
apoptosis-inducing factor, mitochondrion-associated, 1|This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6, which results in a severe mitochondrial encephalomyopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, May 2010]
|
aifm3
|
apoptosis-inducing factor, mitochondrion-associated, 3|
|
aifmediated
|
|
aifrelated
|
|
aig1
|
androgen-induced 1|
|
aigf1raspirs2valucp2
|
|
aigg
|
|
aih
|
|
aiha
|
|
aii
|
|
aiibb3dependent
|
|
aiiinitiated
|
|
aiimediated
|
|
ail
|
|
ailimicos
|
|
ailments
|
|
ailoh
|
|
aim
|
|
aim1
|
absent in melanoma 1|
|
aim2
|
absent in melanoma 2|AIM2 is a member of the IFI20X /IFI16 family. It plays a putative role in tumorigenic reversion and may control cell proliferation. Interferon-gamma induces expression of AIM2. [provided by RefSeq, Jul 2008]
|
aimed
|
|
aimediated
|
|
aiming
|
|
aimp
|
|
aimp1
|
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1|The protein encoded by this gene is a cytokine that is specifically induced by apoptosis, and it is involved in the control of angiogenesis, inflammation, and wound healing. The release of this cytokine renders the tumor-associated vasculature sensitive to tumor necrosis factor. The precursor protein is identical to the p43 subunit, which is associated with the multi-tRNA synthetase complex, and it modulates aminoacylation activity of tRNA synthetase in normal cells. This protein is also involved in the stimulation of inflammatory responses after proteolytic cleavage in tumor cells. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2008]
|
aimp1induced
|
|
aimp3
|
|
aimp3p18
|
|
aims
|
|
ain
|
|
aindependent
|
|
ainduced
|
|
ainhibited
|
|
aiolos
|
|
aip
|
aryl hydrocarbon receptor interacting protein|The protein encoded by this gene is a receptor for aryl hydrocarbons and a ligand-activated transcription factor. The encoded protein is found in the cytoplasm as part of a multiprotein complex, but upon binding of ligand is transported to the nucleus. This protein can regulate the expression of many xenobiotic metabolizing enzymes. Also, the encoded protein can bind specifically to and inhibit the activity of hepatitis B virus. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
|
aip1
|
|
aip2
|
|
aip4
|
|
aip4arrestin2
|
|
aip4itch
|
|
aip5
|
|
aipc
|
|
aipl1
|
aryl hydrocarbon receptor interacting protein-like 1|Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
|
aipret
|
|
air
|
|
airap
|
|
airapl
|
|
airborne
|
|
aire
|
autoimmune regulator|This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012]
|
aireexpressing
|
|
aireinduced
|
|
airemediated
|
|
airep63
|
|
airephd1
|
|
aireregulated
|
|
aires
|
|
airesistant
|
|
airflow
|
|
airliquid
|
|
airspace
|
|
airspaces
|
|
airwater
|
|
airway
|
|
airways
|
|
ais
|
|
aitd
|
|
aitds
|
|
aitl
|
|
aiv
|
|
aiway
|
|
ajc
|
|
ajcc
|
|
ajoeneinduced
|
|
ajs
|
|
ajuba
|
ajuba LIM protein|
|
ak1
|
adenylate kinase 1|Adenylate kinase is an enzyme involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate group among adinine nucleotides. Three isozymes of adenylate kinase have been identified in vertebrates, adenylate isozyme 1 (AK1), 2 (AK2) and 3 (AK3). AK1 is found in the cytosol of skeletal muscle, brain and erythrocytes, whereas AK2 and AK3 are found in the mitochondria of other tissues including liver and heart. AK1 was identified because of its association with a rare genetic disorder causing nonspherocytic hemolytic anemia where a mutation in the AK1 gene was found to reduce the catalytic activity of the enzyme. [provided by RefSeq, Jul 2008]
|
ak4
|
adenylate kinase 4|This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1. [provided by RefSeq, Jul 2008]
|
ak7
|
adenylate kinase 7|
|
ak8
|
adenylate kinase 8|
|
aka
|
|
akap
|
|
akap12
|
A kinase (PRKA) anchor protein 12|The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
akap12a
|
|
akap13
|
A kinase (PRKA) anchor protein 13|The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]
|
akap149
|
|
akap149dakap1
|
|
akap150
|
|
akap220
|
|
akap3
|
A kinase (PRKA) anchor protein 3|This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is reported to participate in protein-protein interactions with the R-subunit of the protein kinase A as well as sperm-associated proteins. This protein is expressed in spermatozoa and localized to the acrosomal region of the sperm head as well as the length of the principal piece. It may function as a regulator of motility, capacitation, and the acrosome reaction. [provided by RefSeq, May 2013]
|
akap350
|
|
akap350a
|
|
akap450
|
|
akap5
|
A kinase (PRKA) anchor protein 5|The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to the RII-beta regulatory subunit of PKA, and also to protein kinase C and the phosphatase calcineurin. It is predominantly expressed in cerebral cortex and may anchor the PKA protein at postsynaptic densities (PSD) and be involved in the regulation of postsynaptic events. It is also expressed in T lymphocytes and may function to inhibit interleukin-2 transcription by disrupting calcineurin-dependent dephosphorylation of NFAT. [provided by RefSeq, Jul 2008]
|
akap7
|
A kinase (PRKA) anchor protein 7|This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011]
|
akap79
|
|
akap79150
|
|
akap9
|
A kinase (PRKA) anchor protein 9|The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq, Aug 2008]
|
akap95
|
|
akap9braf
|
|
akaplbc
|
|
akaps
|
|
akari
|
|
akathisia
|
|
aki
|
|
aki1
|
|
akin
|
|
akinase
|
|
akinaseanchoring
|
|
akinesia
|
Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.
|
akip1
|
A kinase (PRKA) interacting protein 1|This gene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
|
akita
|
|
akkaa
|
|
akna
|
AT-hook transcription factor|
|
aknobs
|
|
akr
|
|
akr1
|
|
akr1b1
|
aldo-keto reductase family 1, member B1 (aldose reductase)|This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member catalyzes the reduction of a number of aldehydes, including the aldehyde form of glucose, and is thereby implicated in the development of diabetic complications by catalyzing the reduction of glucose to sorbitol. Multiple pseudogenes have been identified for this gene. The nomenclature system used by the HUGO Gene Nomenclature Committee to define human aldo-keto reductase family members is known to differ from that used by the Mouse Genome Informatics database. [provided by RefSeq, Feb 2009]
|
akr1b10
|
aldo-keto reductase family 1, member B10 (aldose reductase)|This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member can efficiently reduce aliphatic and aromatic aldehydes, and it is less active on hexoses. It is highly expressed in adrenal gland, small intestine, and colon, and may play an important role in liver carcinogenesis. [provided by RefSeq, Jul 2008]
|
akr1b3
|
|
akr1b3produced
|
|
akr1c
|
|
akr1c1
|
aldo-keto reductase family 1, member C1|This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reaction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]
|
akr1c2
|
aldo-keto reductase family 1, member C2|This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols using NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme binds bile acid with high affinity, and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
|
akr1c3
|
aldo-keto reductase family 1, member C3|This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ), and the oxidation of 9alpha,11beta-PGF2 to PGD2. It may play an important role in the pathogenesis of allergic diseases such as asthma, and may also have a role in controlling cell growth and/or differentiation. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
|
akr1c4
|
aldo-keto reductase family 1, member C4|This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]
|
akr1d1
|
aldo-keto reductase family 1, member D1|The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010]
|
akt
|
|
akt1
|
v-akt murine thymoma viral oncogene homolog 1|The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2011]
|
akt12
|
|
akt12and
|
|
akt1and
|
|
akt1e17k
|
|
akt1gli3vmp1
|
|
akt1mediated
|
|
akt1myc
|
|
akt1nfkappabnotch1pten
|
|
akt2
|
v-akt murine thymoma viral oncogene homolog 2|This gene is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains. The gene was shown to be amplified and overexpressed in 2 of 8 ovarian carcinoma cell lines and 2 of 15 primary ovarian tumors. Overexpression contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. The encoded protein is a general protein kinase capable of phophorylating several known proteins. [provided by RefSeq, Jul 2008]
|
akt2b23
|
|
akt2dependent
|
|
akt2foxo3a
|
|
akt3
|
v-akt murine thymoma viral oncogene homolog 3|The protein encoded by this gene is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
|
aktactivated
|
|
aktactivation
|
|
aktactive
|
|
aktand
|
|
aktask1
|
|
aktbad
|
|
aktbcl2
|
|
aktbetacatenin
|
|
aktbetacateninsnail
|
|
aktcaspase9
|
|
aktdependent
|
|
aktenos
|
|
aktenoshsp90
|
|
akterk
|
|
akterkmediated
|
|
aktezrin
|
|
aktfoxo
|
|
aktfoxo1
|
|
aktfoxo3a
|
|
aktfoxo3abim
|
|
aktfoxo3agsk3betaar
|
|
aktfoxo3agsk3betabetacateninar
|
|
aktfoxobim
|
|
aktfoxomyocardin
|
|
aktgirdin
|
|
aktgsk3
|
|
aktgsk3beta
|
|
aktgsk3betacdc25a
|
|
aktgsk3betacyclin
|
|
aktgsk3betasnail
|
|
akthif1alphapdgfbb
|
|
akthsf1
|
|
akthsp27
|
|
akti
|
|
aktikappab
|
|
aktindependent
|
|
aktinduced
|
|
aktinducible
|
|
aktinhibitory
|
|
aktip
|
AKT interacting protein|The mouse homolog of this gene produces fused toes and thymic hyperplasia in heterozygous mutant animals while homozygous mutants die in early development. This gene may play a role in apoptosis as these morphological abnormalities are caused by altered patterns of programmed cell death. The protein encoded by this gene is similar to the ubiquitin ligase domain of other ubiquitin-conjugating enzymes but lacks the conserved cysteine residue that enables those enzymes to conjugate ubiquitin to the target protein. This protein interacts directly with serine/threonine kinase protein kinase B (PKB)/Akt and modulates PKB activity by enhancing the phosphorylation of PKB's regulatory sites. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
|
aktmammalian
|
|
aktmdm2p53
|
|
aktmediated
|
|
aktmir21
|
|
aktmtor
|
|
aktmtor4ebp1
|
|
aktmtorc1
|
|
aktmtorcip70s6k
|
|
aktmtordependent
|
|
aktmtorp70s6
|
|
aktmtorp70s6k
|
|
aktmtorp70s6k1
|
|
aktnfkappab
|
|
aktnfkappabdependent
|
|
aktnfkb
|
|
aktp21
|
|
aktp53
|
|
aktp70s6k
|
|
aktp70s6k1
|
|
aktpak1
|
|
aktphosphoinositide
|
|
aktphosphorylated
|
|
aktphosphorylation
|
|
aktpi3k
|
|
aktpi3kdependent
|
|
aktpkb
|
|
aktprotein
|
|
aktpten
|
|
aktptenmediated
|
|
aktregulated
|
|
akts473
|
|
akts6k
|
|
aktser473
|
|
aktsignaling
|
A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound.
|
aktsrebp1
|
|
aktsurvivin
|
|
akttorc1
|
|
akttscmtorc1
|
|
al2tf
|
|
al3
|
|
ala
|
|
ala1
|
|
ala119
|
|
ala12
|
|
ala147thr
|
|
ala148thr
|
|
ala158
|
|
ala16val
|
|
ala16valsod2
|
|
ala222val
|
|
ala23thr
|
|
ala26val
|
|
ala288ser
|
|
ala379val
|
|
ala382thr
|
|
ala428
|
|
ala499val
|
|
ala52
|
|
ala558
|
|
ala55val
|
|
ala629
|
|
ala67thr
|
|
ala72
|
|
ala92
|
|
ala9val
|
|
alaala
|
|
alaallele
|
|
alabama
|
|
alabased
|
|
alacrimia
|
|
alad
|
aminolevulinate dehydratase|The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. [provided by RefSeq, Jul 2008]
|
alad2
|
|
aladin
|
|
alagille
|
|
alagly
|
|
alamandine
|
|
alanine
|
|
alanineaspartate
|
|
alanineglyoxylate
|
|
alaninerich
|
|
alanines
|
|
alaninescanning
|
|
alarm
|
|
alarmin
|
|
alarmins
|
|
alas
|
|
alas1
|
5'-aminolevulinate synthase 1|This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
|
alas2
|
5'-aminolevulinate synthase 2|The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
alascanning
|
|
alaska
|
|
alasod2
|
|
alathr
|
|
alats12aurora
|
|
alaval
|
|
alaxalaalaxvalprox4valprox8pro
|
|
alb
|
albumin|Albumin is a soluble, monomeric protein which comprises about one-half of the blood serum protein. Albumin functions primarily as a carrier protein for steroids, fatty acids, and thyroid hormones and plays a role in stabilizing extracellular fluid volume. Albumin is a globular unglycosylated serum protein of molecular weight 65,000. Albumin is synthesized in the liver as preproalbumin which has an N-terminal peptide that is removed before the nascent protein is released from the rough endoplasmic reticulum. The product, proalbumin, is in turn cleaved in the Golgi vesicles to produce the secreted albumin. [provided by RefSeq, Jul 2008]
|
alb6
|
|
alba
|
|
albanian
|
|
albatype
|
|
albeit
|
|
albendazole
|
|
alberta
|
|
albescens
|
|
albicans
|
|
albicansinduced
|
|
albicansnative
|
|
albinism
|
An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).
|
albinisms
|
|
albino
|
|
albipunctatus
|
|
albright
|
|
albrights
|
|
albumin
|
|
albuminadvanced
|
|
albuminbinding
|
|
albumincreatinine
|
|
albuminhba1c
|
|
albuminin
|
|
albumininduced
|
|
albuminuria
|
The presence of albumin in the urine, an indicator of KIDNEY DISEASES.
|
albuterol
|
A member of the class of phenylethanolamines that is 4-(2-amino-1-hydroxyethyl)-2-(hydroxymethyl)phenol having a tert-butyl group attached to the nirogen atom. It acts as a beta-adrenergic agonist used in the treatment of asthma and chronic obstructive pulmonary disease (COPD).
|
alc
|
|
alc1
|
|
alcadein
|
|
alcalpha1
|
|
alcam
|
activated leukocyte cell adhesion molecule|This gene encodes activated leukocyte cell adhesion molecule (ALCAM), also known as CD166 (cluster of differentiation 166), which is a member of a subfamily of immunoglobulin receptors with five immunoglobulin-like domains (VVC2C2C2) in the extracellular domain. This protein binds to T-cell differentiation antigene CD6, and is implicated in the processes of cell adhesion and migration. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2011]
|
alcammediated
|
|
alcbeta
|
|
alcgamma
|
|
alcl
|
|
alcohol
|
A compound in which a hydroxy group, -OH, is attached to a saturated carbon atom.
|
alcoholassociated
|
|
alcoholdependent
|
|
alcoholic
|
|
alcoholics
|
|
alcoholinduced
|
|
alcoholism
|
A primary, chronic disease with genetic, psychosocial, and environmental factors influencing its development and manifestations. The disease is often progressive and fatal. It is characterized by impaired control over drinking, preoccupation with the drug alcohol, use of alcohol despite adverse consequences, and distortions in thinking, most notably denial. Each of these symptoms may be continuous or periodic. (Morse & Flavin for the Joint Commission of the National Council on Alcoholism and Drug Dependence and the American Society of Addiction Medicine to Study the Definition and Criteria for the Diagnosis of Alcoholism: in JAMA 1992;268:1012-4)|Disorders related to or resulting from abuse or mis-use of alcohol.
|
alcoholmetabolizing
|
|
alcoholrelated
|
|
alcoholreview
|
|
alcohols
|
|
alcoholspecific
|
|
ald
|
|
aldehyde
|
A compound RC(=O)H, in which a carbonyl group is bonded to one hydrogen atom and to one R group.
|
aldehydes
|
|
aldh
|
|
aldh1
|
|
aldh16a1
|
aldehyde dehydrogenase 16 family, member A1|This gene encodes a member of the aldehyde dehydrogenase superfamily. The family members act on aldehyde substrates and use nicotinamide adenine dinucleotide phosphate (NADP) as a cofactor. This gene is conserved in chimpanzee, dog, cow, mouse, rat, and zebrafish. The protein encoded by this gene interacts with maspardin, a protein that when truncated is responsible for Mast syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
|
aldh1a1
|
aldehyde dehydrogenase 1 family, member A1|The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet. [provided by RefSeq, Mar 2011]
|
aldh1a2
|
aldehyde dehydrogenase 1 family, member A2|This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]
|
aldh1a2crabp2
|
|
aldh1a3
|
aldehyde dehydrogenase 1 family, member A3|This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
|
aldh1b1
|
aldehyde dehydrogenase 1 family, member B1|This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding sequence. The variation of this locus may affect the development of alcohol-related problems. [provided by RefSeq, Jul 2008]
|
aldh1l1
|
aldehyde dehydrogenase 1 family, member L1|The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, nicotinamide adenine dinucleotide phosphate (NADP+), and water to tetrahydrofolate, NADPH, and carbon dioxide. The encoded protein belongs to the aldehyde dehydrogenase family. Loss of function or expression of this gene is associated with decreased apoptosis, increased cell motility, and cancer progression. There is an antisense transcript that overlaps on the opposite strand with this gene locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
|
aldh2
|
aldehyde dehydrogenase 2 family (mitochondrial)|This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of Orientals have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Orientals than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2011]
|
aldh21
|
|
aldh212
|
|
aldh22
|
|
aldh2504lys
|
|
aldh2a
|
|
aldh2or
|
|
aldh3a1
|
aldehyde dehydrogenase 3 family, member A1|Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic and medium-chain (6 carbons or more) saturated and unsaturated aldehyde substrates. It is thought to promote resistance to UV and 4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008]
|
aldh4
|
|
aldh7a1
|
aldehyde dehydrogenase 7 family, member A1|The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011]
|
aldhgoverned
|
|
aldhlow
|
|
aldhs
|
|
aldoa
|
aldolase A, fructose-bisphosphate|The protein encoded by this gene, Aldolase A (fructose-bisphosphate aldolase), is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Aldolase A is found in the developing embryo and is produced in even greater amounts in adult muscle. Aldolase A expression is repressed in adult liver, kidney and intestine and similar to aldolase C levels in brain and other nervous tissue. Aldolase A deficiency has been associated with myopathy and hemolytic anemia. Alternative splicing and alternative promoter usage results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Aug 2011]
|
aldoarelated
|
|
aldoketo
|
|
aldoketoreductase
|
|
aldolase
|
|
aldose
|
|
aldosterone
|
A pregnane-based steroidal hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney.
|
aldosteronedependent
|
|
aldosteroneinduced
|
|
aldosteronemediated
|
|
aldosteroneproducing
|
|
aldosterones
|
|
aldosteronesecreting
|
|
aldosteronetorenin
|
|
aldosteronism
|
|
aldp
|
|
aldrich
|
|
aldrp
|
|
aleglitazar
|
|
alele
|
|
alelle
|
|
alemtuzumab
|
|
alendronate
|
|
alert
|
|
alerting
|
|
alertness
|
|
aleurone
|
|
aleut
|
|
alexander
|
|
alexandria
|
|
alexithymia
|
An agnosia that is a deficiency in understanding, processing, or describing emotions.
|
alf
|
|
alf1
|
|
alfa
|
|
alfa2a
|
|
alfainduced
|
|
alfentanil
|
A member of the class of piperidines that is piperidine having a 2-(4-ethyl-5-oxo-4,5-dihydro-1H-tetrazol-1-yl)ethyl group at the 1-position as well as N-phenylpropanamido- and methoxymethyl groups at the 4-position.
|
alfy
|
|
alg13
|
ALG13, UDP-N-acetylglucosaminyltransferase subunit|The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
|
alg14
|
ALG14, UDP-N-acetylglucosaminyltransferase subunit|This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
|
alg2
|
ALG2, alpha-1,3/1,6-mannosyltransferase|This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]
|
alg2binding
|
|
alg2interacting
|
|
alg2sec31a
|
|
algeria
|
|
algerian
|
|
alginate
|
|
algorithm
|
|
algorithms
|
|
alheimer
|
|
ali
|
Acute lung injury (ALI) is a diffuse heterogeneous lung injury characterized by hypoxemia, non cardiogenic pulmonary edema, low lung compliance and widespread capillary leakage. ALI is caused by any stimulus of local or systemic inflammation, principally sepsis.
|
alia
|
|
alien
|
|
alienmlk2
|
|
aligarh
|
|
align
|
|
alignant
|
|
aligned
|
|
aligning
|
|
alignment
|
|
alignments
|
|
aligns
|
|
aliii
|
|
alike
|
|
alimentary
|
|
aliphatic
|
|
aliskiren
|
|
alive
|
|
alix
|
|
alixbinding
|
|
alixs
|
|
alixtype
|
|
alk
|
anaplastic lymphoma receptor tyrosine kinase|This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011]
|
alk1
|
|
alk1alk5
|
|
alk1mediated
|
|
alk1smad1
|
|
alk2
|
|
alk2r206h
|
|
alk2smad1
|
|
alk2smad1smad4
|
|
alk3
|
|
alk3mediated
|
|
alk4
|
|
alk4mediated
|
|
alk5
|
|
alk5dependent
|
|
alk5smad
|
|
alk5smad23
|
|
alk7
|
|
alk7induced
|
|
alkali
|
|
alkaline
|
|
alkalinization
|
|
alkaloid
|
Any of the naturally occurring, basic nitrogen compounds (mostly heterocyclic) occurring mostly in the plant kingdom, but also found in bacteria, fungi, and animals. By extension, certain neutral compounds biogenetically related to basic alkaloids are also classed as alkaloids. Amino acids, peptides, proteins, nucleotides, nucleic acids, amino sugars and antibiotics are not normally regarded as alkaloids. Compounds in which the nitrogen is exocyclic (dopamine, mescaline, serotonin, etc.) are usually classed as amines rather than alkaloids.
|
alkaloids
|
|
alkalosis
|
Depletion of acid or accumulation base in the body fluids.
|
alkassociated
|
|
alkb
|
Catalysis of the oxidative demethylation of N1-methyladenine and N3-methylcytosine in DNA and RNA, with concomitant decarboxylation of 2-oxoglutarate and releases oxidized methyl group on N1-methyladenine and N3-methylcytosine as formaldehyde.
|
alkbh2
|
alkB, alkylation repair homolog 2 (E. coli)|The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 and ALKBH3 (MIM 610603) are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008]
|
alkbh2catalyzed
|
|
alkbh3dependent
|
|
alkbh5
|
AlkB family member 5, RNA demethylase|
|
alkmediated
|
|
alknegative
|
|
alkpositive
|
|
alkrearranged
|
|
alkshcc
|
|
alktcl
|
|
alkyl
|
|
alkyladenine
|
|
alkylamides
|
|
alkylated
|
|
alkylating
|
|
alkylation
|
|
alkylosing
|
|
all
|
When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term.|Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia.|A neoplasm characterized by abnormalities of the lymphoid cell precursors leading to excessive lymphoblasts in the marrow and other organs. It is the most common cancer in children and accounts for the vast majority of all childhood leukemias.|A leukemia/lymphoma found predominately in children and adolescents and characterized by a high number of lymphoblasts and solid tumor lesions. Frequent sites involve LYMPH NODES, skin, and bones. It most commonly presents as leukemia.|Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the precursor B lymphoblastic leukemia and precursor T lymphoblastic leukemia.
|
all02
|
|
all1
|
|
all1af4
|
|
all1af9
|
|
all2004
|
|
all38
|
|
allacute
|
|
allalphahelical
|
|
allassociated
|
|
allatom
|
|
allbeta
|
|
allcause
|
|
allcone
|
|
allderived
|
|
alleged
|
|
allegedly
|
|
allel
|
|
allele
|
|
allele2
|
|
allelecontaining
|
|
alleledependent
|
|
alleledosage
|
|
alleleg
|
|
allelegenotype
|
|
allelegenotypewise
|
|
alleleic
|
|
alleles
|
|
allelesgenotypes
|
|
alleleshaplotypes
|
|
allelesin
|
|
allelespecific
|
|
allelesreview
|
|
allelic
|
|
allelicgenotypic
|
|
allelle
|
|
allelotype
|
|
allelotypes
|
|
allels
|
|
allergen
|
|
allergenchallenged
|
|
allergenderived
|
|
allergenicity
|
|
allergeninduced
|
|
allergenmediated
|
|
allergens
|
|
allergenspecific
|
|
allergic
|
|
allergies
|
|
allergy
|
|
allergyrelated
|
|
alleviate
|
|
alleviated
|
|
alleviates
|
|
alleviating
|
|
alleviation
|
|
alliance
|
|
allicin
|
A sulfoxide that has formula C6H10OS2.
|
allitridi
|
|
alll1
|
|
allo
|
|
alloantibodies
|
|
alloantibody
|
|
alloantigen
|
|
alloantigens
|
|
alloantigenspecific
|
|
allocated
|
|
allocation
|
|
allodynia
|
Pain due to a stimulus that does not normally provoke pain.
|
alloferon
|
|
alloforms
|
|
allogeneic
|
|
allogenic
|
|
allograft
|
|
allografted
|
|
allografts
|
|
allohsct
|
|
alloimmune
|
|
alloimmuneinduced
|
|
alloimmunization
|
|
alloisoleucinea2
|
|
allopregnanolone
|
|
allopurinol
|
A bicyclic structure comprising a pyrazole ring fused to a hydroxy-substituted pyrimidine ring.
|
allopurinolrelated
|
|
alloreactive
|
|
alloreactivity
|
|
allorecognition
|
|
alloresponse
|
|
alloresponsive
|
|
allornone
|
|
allosct
|
|
allospecific
|
|
allospecificities
|
|
allospecificity
|
|
allostasis
|
|
allostatic
|
|
allostem
|
|
allosteric
|
|
allosterically
|
|
allosterism
|
|
allostery
|
|
allostimulated
|
|
allostimulation
|
|
allostimulatory
|
|
allotcell
|
|
allotransplantation
|
|
allotropic
|
|
allotype
|
|
allotypes
|
|
allotypic
|
|
allow
|
|
allowance
|
|
allowed
|
|
allowing
|
|
allows
|
|
alloxan
|
A member of the class of pyrimidones, the structure of which is that of perhydropyrimidine substituted at C-2, -4, -5 and -6 by oxo groups.
|
allozyme
|
|
allpositive
|
|
alls
|
|
alltrans
|
|
alltransra
|
|
alltransretinal
|
|
alltransretinaldehyde
|
|
alltransretinoic
|
|
alltransretinol
|
|
allude
|
|
alludes
|
|
alluding
|
|
allying
|
|
alm
|
|
almokalant
|
|
almost
|
|
alms1
|
Alstrom syndrome protein 1|This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]
|
aln
|
|
alo17
|
|
aloe
|
|
aloeemodin
|
|
alogliptin
|
A piperidine that is 3-methyl-2,4-dioxo-3,4-dihydropyrimidine carrying additional 2-cyanobenzyl and 3-aminopiperidin-1-yl groups at positions 1 and 2 respectively (the R-enantiomer). Used in the form of its benzoate salt for treatment of type 2 diabetes.
|
alone
|
|
along
|
|
alongside
|
|
aloop
|
|
alopecia
|
A hypotrichosis that is characterized by a loss of hair from the head or body.
|
alox
|
|
alox12
|
arachidonate 12-lipoxygenase|
|
alox12b
|
arachidonate 12-lipoxygenase, 12R type|This gene encodes an enzyme involved in the converstion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Jul 2008]
|
alox15
|
arachidonate 15-lipoxygenase|
|
alox15b
|
arachidonate 15-lipoxygenase, type B|This gene encodes a member of the lipoxygenase family of structurally related nonheme iron dioxygenases involved in the production of fatty acid hydroperoxides. The encoded protein converts arachidonic acid exclusively to 15S-hydroperoxyeicosatetraenoic acid, while metabolizing linoleic acid less effectively. This gene is located in a cluster of related genes and a pseudogene that spans approximately 100 kilobases on the short arm of chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
|
alox5
|
arachidonate 5-lipoxygenase|This gene encodes a member of the lipoxygenase gene family and plays a dual role in the synthesis of leukotrienes from arachidonic acid. The encoded protein, which is expressed specifically in bone marrow-derived cells, catalyzes the conversion of arachidonic acid to 5(S)-hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoic acid, and further to the allylic epoxide 5(S)-trans-7,9-trans-11,14-cis-eicosatetrenoic acid (leukotriene A4). Leukotrienes are important mediators of a number of inflammatory and allergic conditions. Mutations in the promoter region of this gene lead to a diminished response to antileukotriene drugs used in the treatment of asthma and may also be associated with atherosclerosis and several cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
|
alox5ap
|
arachidonate 5-lipoxygenase-activating protein|This gene encodes a protein which, with 5-lipoxygenase, is required for leukotriene synthesis. Leukotrienes are arachidonic acid metabolites which have been implicated in various types of inflammatory responses, including asthma, arthritis and psoriasis. This protein localizes to the plasma membrane. Inhibitors of its function impede translocation of 5-lipoxygenase from the cytoplasm to the cell membrane and inhibit 5-lipoxygenase activation. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]
|
alox5apsg13s114aa
|
|
aloxe3
|
arachidonate lipoxygenase 3|This gene is a member of the lipoxygenase family, which are catabolized by arachidonic acid-derived compounds. The encoded enzyme is a hydroperoxide isomerase that synthesizes a unique type of epoxy alcohol (8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trienoic acid) from 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). This epoxy alcohol can activate the the nuclear receptor peroxisome proliferator-activated receptor alpha (PPARalpha), which is implicated in epidermal differentiation. Loss of function of the enzyme encoded by this gene results in ichthyosis, implicating the function of this gene in the differentiation of human skin. This gene is part of a cluster of lipoxygenase genes on 17p13.1. Mutations in this gene result in nonbullous congenital ichthyosiform erythroderma (NCIE). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
|
alp
|
|
alp1
|
|
alp4
|
|
alp6
|
|
alpahvbeta6
|
|
alpha
|
A S. cerevisiae mating type cells that secrete a pheromone that stimulates a haploids.
|
alpha0
|
|
alpha1
|
|
alpha10
|
|
alpha11
|
|
alpha112
|
|
alpha11beta1
|
|
alpha12
|
|
alpha1213
|
|
alpha122h5hisgln
|
|
alpha12fucose
|
|
alpha12fucosyltransferase
|
|
alpha12iv
|
|
alpha12mannosidase
|
|
alpha13
|
|
alpha134
|
|
alpha13dxylosyltransferases
|
|
alpha13fucosyltransferase
|
|
alpha13fuctvii
|
|
alpha13p115rhogef
|
|
alpha16
|
|
alpha16fucosylation
|
|
alpha1a
|
|
alpha1a247rexpressing
|
|
alpha1a52s
|
|
alpha1aadrenoceptor
|
|
alpha1aadrenoceptors
|
|
alpha1aar
|
|
alpha1aars
|
|
alpha1acid
|
|
alpha1adrenergic
|
|
alpha1adrenoceptor
|
Combining with epinephrine or norepinephrine to initiate a change in cell activity via activation of a G protein, with pharmacological characteristics of alpha1-adrenergic receptors; the activity involves transmitting the signal to the Gq alpha subunit of a heterotrimeric G protein.
|
alpha1adrenoceptors
|
|
alpha1alpha2
|
|
alpha1antichymotrypsin
|
|
alpha1antitripsin
|
|
alpha1antitrypsin
|
|
alpha1antitrypsindeficient
|
|
alpha1ar
|
|
alpha1arg120
|
|
alpha1ars
|
|
alpha1at
|
|
alpha1b
|
|
alpha1badrenergic
|
|
alpha1badrenoceptor
|
|
alpha1bar
|
|
alpha1beta1
|
|
alpha1beta1integrin
|
|
alpha1beta2
|
|
alpha1beta2gamma2
|
|
alpha1beta2gamma2l
|
|
alpha1beta3
|
|
alpha1beta3gamma2
|
|
alpha1betaxdelta
|
|
alpha1bglycoprotein
|
|
alpha1c
|
|
alpha1d
|
|
alpha1dadrenergic
|
|
alpha1dadrenoceptor
|
|
alpha1dar
|
|
alpha1derived
|
|
alpha1g
|
|
alpha1globin
|
|
alpha1h
|
|
alpha1helix
|
|
alpha1i
|
|
alpha1i2alpha2i
|
|
alpha1i3
|
|
alpha1iii
|
|
alpha1integrins
|
|
alpha1iv
|
|
alpha1iv382393
|
|
alpha1iv531543
|
|
alpha1microglobulin
|
|
alpha1nakatpase
|
|
alpha1pi
|
|
alpha1protease
|
|
alpha1proteinase
|
|
alpha1subunit
|
|
alpha1syntrophin
|
|
alpha1v2alpha2v
|
|
alpha1v3
|
|
alpha1vi
|
|
alpha1vii
|
|
alpha2
|
|
alpha2088
|
|
alpha23sialidase
|
|
alpha23sialyltransferase
|
|
alpha25dihydroxyvitamin
|
|
alpha25oh2d3induced
|
|
alpha26
|
|
alpha26linked
|
|
alpha26sialylated
|
|
alpha26sialylation
|
|
alpha26sialyltransferase
|
|
alpha28linked
|
|
alpha2a
|
|
alpha2aadrenergic
|
|
alpha2aadrenoreceptor
|
|
alpha2aar
|
|
alpha2abeta2adrenergic
|
|
alpha2adrenergic
|
|
alpha2adrenoceptors
|
|
alpha2alpha2
|
|
alpha2alpha3
|
|
alpha2antiplasmin
|
|
alpha2antiplasminplasmin
|
|
alpha2ap
|
|
alpha2ar
|
|
alpha2ars
|
|
alpha2b
|
|
alpha2badrenergic
|
|
alpha2bar
|
|
alpha2bbeta3
|
|
alpha2beta1
|
|
alpha2beta1alpha3beta1
|
|
alpha2beta1collagen
|
|
alpha2beta1gamma2l
|
|
alpha2beta1integrin
|
|
alpha2beta1mediated
|
|
alpha2beta1specific
|
|
alpha2beta2
|
|
alpha2c
|
|
alpha2cadrenoceptor
|
|
alpha2cadrenoceptors
|
|
alpha2cadrenoreceptor
|
|
alpha2car
|
|
alpha2cars
|
|
alpha2delta
|
|
alpha2delta1
|
|
alpha2globin
|
|
alpha2glycoprotein
|
|
alpha2glycoprotein1
|
|
alpha2i
|
|
alpha2integrin
|
|
alpha2iv
|
|
alpha2m
|
|
alpha2macroglobulin
|
|
alpha2mg
|
|
alpha2microglobulin
|
|
alpha2ml1
|
|
alpha2noradrenergic
|
|
alpha2plasmin
|
|
alpha2v
|
|
alpha2vi
|
|
alpha3
|
|
alpha32b13metlys
|
|
alpha36
|
|
alpha37
|
|
alpha3alpha5beta4
|
|
alpha3alpha6
|
|
alpha3alpha6beta1
|
|
alpha3beta1
|
|
alpha3beta1alpha6beta1
|
|
alpha3beta1dependent
|
|
alpha3beta1mediated
|
|
alpha3beta1shp1campprotein
|
|
alpha3beta1stimulated
|
|
alpha3beta2
|
|
alpha3beta2nachrs
|
|
alpha3beta3gamma
|
|
alpha3beta4
|
|
alpha3iv
|
|
alpha3nc1
|
|
alpha3qip1
|
|
alpha3ss3gamma2lm332
|
|
alpha4
|
|
alpha4alpha4
|
|
alpha4beta1
|
|
alpha4beta1cd81
|
|
alpha4beta1dependent
|
|
alpha4beta1mediated
|
|
alpha4beta2
|
|
alpha4beta22alpha4
|
|
alpha4beta2alpha5
|
|
alpha4beta2nachr
|
|
alpha4beta3gamma2l
|
|
alpha4beta4
|
|
alpha4beta7
|
|
alpha4beta7igg
|
|
alpha4beta7mediated
|
|
alpha4c589c594
|
|
alpha4cytoplasmic
|
|
alpha4integrin
|
|
alpha4iv
|
|
alpha4mediated
|
|
alpha4nachr
|
|
alpha4pp2ac
|
|
alpha5
|
|
alpha5alpha1
|
|
alpha5beta1
|
|
alpha5beta1dependent
|
|
alpha5beta1fc
|
|
alpha5beta1gamma1
|
|
alpha5beta1integrin
|
|
alpha5beta1integrincmetfaksrcdependent
|
|
alpha5beta1integrindependent
|
|
alpha5beta1integrinmediated
|
|
alpha5beta1mediated
|
|
alpha5beta2
|
|
alpha5beta2gamma2l
|
|
alpha5beta3
|
|
alpha5integrin
|
|
alpha5iv
|
|
alpha5ivalpha6iv
|
|
alpha5laminins
|
|
alpha6
|
|
alpha6abeta4
|
|
alpha6bbeta4
|
|
alpha6beta1
|
|
alpha6beta1integrin
|
|
alpha6beta1integrinmediated
|
|
alpha6beta2beta3
|
|
alpha6beta4
|
|
alpha6beta4dependent
|
|
alpha6bricd71dim
|
|
alpha6integrin
|
|
alpha6iv
|
|
alpha6nachr
|
|
alpha7
|
|
alpha7beta0
|
|
alpha7beta1
|
|
alpha7beta1d
|
|
alpha7hsmscob
|
|
alpha7integrin
|
|
alpha7nachr
|
|
alpha7nachrmediated
|
|
alpha7nachrs
|
|
alpha7nicotinic
|
|
alpha7x2beta1
|
|
alpha8
|
|
alpha807tt
|
|
alpha8beta1
|
|
alpha9
|
|
alpha9alpha10
|
|
alpha9beta1
|
|
alpha9beta1binding
|
|
alpha9dependent
|
|
alpha9helix
|
|
alpha9integrin
|
|
alpha9nachr
|
|
alpha9nachrmediated
|
|
alphaa
|
|
alphaaacetyl
|
|
alphaaalphabcrystallins
|
|
alphaacc1
|
|
alphaacontaining
|
|
alphaacrystallin
|
|
alphaactin
|
|
alphaactin4
|
|
alphaactinin
|
|
alphaactinin1
|
|
alphaactinin14regulated
|
|
alphaactinin1dependent
|
|
alphaactinin2
|
|
alphaactinin3
|
|
alphaactinin4
|
|
alphaactinindependent
|
|
alphaactinins
|
|
alphaactn4
|
|
alphaadaptin
|
|
alphaadducin
|
|
alphaadrenergic
|
|
alphaahrarnt
|
|
alphaalpha
|
|
alphaalphaalphaanti
|
|
alphaamino
|
|
alphaamino3hydroxy5methyl4isoxazolepropionic
|
|
alphaamylase
|
|
alphaamylases
|
|
alphaantagonistic
|
|
alphaantiplasmin
|
|
alphaapps
|
|
alphaarrestin
|
|
alphaassociated
|
|
alphab
|
|
alphabc
|
|
alphabcrystallin
|
|
alphabcrystallins
|
|
alphabeta
|
|
alphabeta1
|
|
alphabeta90
|
|
alphabetadependent
|
|
alphabetaenalsenones
|
|
alphabetagamma
|
|
alphabetaglobin
|
|
alphabetaheterodimers
|
|
alphabetainterface
|
|
alphabetamediated
|
|
alphabetarecognized
|
|
alphabetasubunit
|
|
alphabetat
|
|
alphabetaunsaturated
|
|
alphablockers
|
|
alphaborano
|
|
alphabromo
|
|
alphabungarotoxin
|
|
alphac
|
|
alphacamkii
|
|
alphacat
|
|
alphacatenin
|
|
alphacateninp120
|
|
alphacatenins
|
|
alphacateninvinculinfactin
|
|
alphacatulin
|
|
alphacdomain
|
|
alphacell
|
|
alphacells
|
|
alphachain
|
|
alphachains
|
|
alphachelix
|
|
alphachimaerin
|
|
alphacleaved
|
|
alphaconotoxin
|
|
alphaconotoxins
|
|
alphaconverting
|
|
alphacop
|
|
alphacouptfi
|
|
alphacp1
|
|
alphacp2
|
|
alphacrystallin
|
|
alphacrystallins
|
|
alphacys45phe
|
|
alphad
|
|
alphadefensin
|
|
alphadefensin1
|
|
alphadefensin1alphadefensin3
|
|
alphadefensins
|
|
alphadefensins13
|
|
alphadelta
|
|
alphadependent
|
|
alphadg
|
|
alphadgk
|
|
alphadihydrotestosterone
|
|
alphadystrobrevin
|
|
alphadystrobrevin1
|
|
alphadystroglycan
|
|
alphadystroglycanopathy
|
|
alphaebeta7
|
|
alphaebeta7ecadherin
|
|
alphaecatenin
|
|
alphaeffects
|
|
alphaegfr
|
|
alphaehelix
|
|
alphaenac
|
|
alphaenolase
|
|
alphaepidermal
|
|
alphaeralpha
|
|
alphaexon
|
|
alphafetoprotein
|
|
alphafetoproteinproducing
|
|
alphafhelix
|
|
alphafodrin
|
|
alphafoetoprotein
|
|
alphafp
|
|
alphafucosidase
|
|
alphagal
|
|
alphagalactosidase
|
|
alphagalactosylceramide
|
|
alphagamma
|
|
alphaglcnaccapped
|
|
alphaglobin
|
|
alphaglucosidase
|
|
alphaglucosidases
|
|
alphagmr
|
|
alphagranular
|
|
alphagranule
|
|
alphagranules
|
|
alphagst
|
|
alphagustducin
|
|
alphah
|
|
alphahb
|
|
alphahelical
|
|
alphahelices
|
|
alphahelicity
|
|
alphahelix
|
|
alphahelixcontaining
|
|
alphahemoglobin
|
|
alphahemoglobinstabilizing
|
|
alphahemolysin
|
|
alphaherpesviruses
|
|
alphahsd
|
|
alphahuman
|
|
alphahydroxylase
|
|
alphahydroxylation
|
|
alphai
|
|
alphai1
|
|
alphai2
|
|
alphaifn
|
|
alphaihelix
|
|
alphaii
|
|
alphaiib
|
|
alphaiibbeta3
|
|
alphaiibbeta3fcgammariia
|
|
alphaiibbeta3fibrinogen
|
|
alphaiibbeta3kindlins
|
|
alphaiibbeta3mediated
|
|
alphaiibbeta3s
|
|
alphaiibbeta3serotonin
|
|
alphaiibeta1
|
|
alphaiibeta3
|
|
alphaiibmediated
|
|
alphaiibsubunit
|
|
alphaiiph
|
|
alphaiisp
|
|
alphaiispectrin
|
|
alphainduced
|
|
alphainducible
|
|
alphainhibin
|
|
alphaintegrin
|
|
alphaintercalated
|
|
alphainternexin
|
|
alphaiodoestradiol
|
|
alphaisoform
|
|
alphajnknikikk
|
|
alphakap
|
|
alphaketo
|
|
alphaketoacid
|
|
alphaketoglutarate
|
|
alphaketoglutaratedependent
|
|
alphakg
|
|
alphakgdependent
|
|
alphaki
|
|
alphakinase
|
|
alphaklotho
|
|
alphal
|
|
alphala
|
|
alphalactalbumin
|
|
alphalbeta2
|
|
alphalbeta2dependent
|
|
alphalfucosidase
|
|
alphalinolenic
|
|
alphalipoic
|
|
alphaliposomes
|
|
alphaliver
|
|
alphaloop
|
|
alphalpailike
|
|
alpham
|
|
alphamacpfgamma
|
|
alphamangostin
|
|
alphamannosidase
|
|
alphambeta2
|
|
alphambeta2gpibalpha
|
|
alphambeta2mediated
|
|
alphamediated
|
|
alphamelanocyte
|
|
alphamelanocytestimulating
|
|
alphamethylacyl
|
|
alphamethylacylcoa
|
|
alphamethylacylcoenzyme
|
|
alphamethylene
|
|
alphamhc
|
|
alphamidomain
|
|
alphamigrating
|
|
alphamintegrin
|
|
alphamintegrinicam1
|
|
alphamir21tropomyosin
|
|
alphamsh
|
|
alphamshcamp
|
|
alphamshinduced
|
|
alphamshmediated
|
|
alphamyosin
|
|
alphanac
|
|
alphanacetylgalactosaminidase
|
|
alphanaphthoflavone
|
|
alphanegative
|
|
alphaneurexin
|
|
alphanfkappab
|
|
alphanmethyltransferase
|
|
alphanu
|
|
alphanubeta3
|
|
alphanubeta5
|
|
alphanuclear
|
|
alphapapillomavirus
|
|
alphaparticleinduced
|
|
alphaparvin
|
|
alphapdgfr
|
|
alphapix
|
|
alphapixmediated
|
|
alphaplateletderived
|
|
alphapositive
|
|
alphaprimase
|
|
alphaprocessing
|
|
alphaprogesterone
|
|
alphapropeller
|
|
alphaprotein
|
|
alphaq
|
|
alphaq11
|
|
alphaq11coupled
|
|
alphaq11pecam1
|
|
alphaqca2calmodulin
|
|
alphaqmediated
|
|
alphareceptor
|
|
alphareductase
|
|
alpharegulated
|
|
alpharelated
|
|
alpharesponsive
|
|
alpharetinoid
|
|
alphargs
|
|
alpharii
|
|
alphas
|
|
alphasarcoglycan
|
|
alphasatellite
|
|
alphasecretase
|
|
alphasecretasederived
|
|
alphasecretaselike
|
|
alphasecretases
|
|
alphasecretion
|
|
alphasecretory
|
|
alphasg
|
|
alphaskeletal
|
|
alphasma
|
|
alphasmapositive
|
|
alphasmediated
|
|
alphasmooth
|
|
alphasn
|
|
alphasnap
|
|
alphaspecific
|
|
alphaspectrin
|
|
alphastimulated
|
|
alphasubunit
|
|
alphasubunits
|
|
alphasyn
|
|
alphasynemin
|
|
alphasyngcase
|
|
alphasyninduced
|
|
alphasyntrophin
|
|
alphasynuclein
|
|
alphasynucleinalphasynuclein
|
|
alphasynucleinbinding
|
|
alphasynucleincontaining
|
|
alphasynucleindopamine
|
|
alphasynucleininduced
|
|
alphasynucleinmediated
|
|
alphasynucleinopathies
|
|
alphasynucleinopathy
|
|
alphasynucleinpositive
|
|
alphasynucleins
|
|
alphasynucleinsynphilin1
|
|
alphat
|
|
alphat663henac
|
|
alphatectorin
|
|
alphatectorininteracting
|
|
alphathal
|
|
alphathal1
|
|
alphathalassaemia
|
|
alphathalassemia
|
|
alphathalassemiamr
|
|
alphathalassemic
|
|
alphathrombin
|
|
alphatm
|
|
alphatocopherol
|
|
alphatocopheryl
|
|
alphatomatine
|
|
alphatoxin
|
|
alphatropomyosin
|
|
alphatsinduced
|
|
alphatubulin
|
|
alphav
|
|
alphav4beta3
|
|
alphavbeta
|
|
alphavbeta1
|
|
alphavbeta3
|
|
alphavbeta3alphavbeta5
|
|
alphavbeta3cd47
|
|
alphavbeta3dependent
|
|
alphavbeta3erk1erk2
|
|
alphavbeta3fakmtor
|
|
alphavbeta3focal
|
|
alphavbeta3igfigf1r
|
|
alphavbeta3integrin
|
|
alphavbeta3mediated
|
|
alphavbeta3overexpressing
|
|
alphavbeta3srcpi3kaktdependent
|
|
alphavbeta3tat
|
|
alphavbeta3vitronectinprovoked
|
|
alphavbeta5
|
|
alphavbeta5aktnfkappab
|
|
alphavbeta5beta6
|
|
alphavbeta5phosphoinositide3kinasedependent
|
|
alphavbeta6
|
|
alphavbeta6dependent
|
|
alphavbeta8
|
|
alphavbeta8integrins
|
|
alphavbeta8mediated
|
|
alphavegf
|
|
alphavintegrin
|
|
alphavirus
|
|
alphavmediated
|
|
alphavwf
|
|
alphaxbeta2
|
|
alphazearalanol
|
|
alphoid
|
|
alpi
|
alkaline phosphatase, intestinal|There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The intestinal alkaline phosphatase gene encodes a digestive brush-border enzyme. This enzyme is a component of the gut mucosal defense system and is thought to function in the detoxification of lipopolysaccharide, and in the prevention of bacterial translocation in the gut. [provided by RefSeq, Dec 2014]
|
alpine
|
|
alpinists
|
|
alpk2
|
alpha-kinase 2|
|
alpl
|
alkaline phosphatase, liver/bone/kidney|There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. The exact physiological function of the alkaline phosphatases is not known. A proposed function of this form of the enzyme is matrix mineralization; however, mice that lack a functional form of this enzyme show normal skeletal development. This enzyme has been linked directly to hypophosphatasia, a disorder that is characterized by hypercalcemia and includes skeletal defects. The character of this disorder can vary, however, depending on the specific mutation since this determines age of onset and severity of symptoms. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
|
alport
|
|
alports
|
|
alpp
|
alkaline phosphatase, placental|The protein encoded by this gene is an alkaline phosphatase, a metalloenzyme that catalyzes the hydrolysis of phosphoric acid monoesters. It belongs to a multigene family composed of four alkaline phosphatase isoenzymes. The enzyme functions as a homodimer and has a catalytic site containing one magnesium and two zinc ions, which are required for its enzymatic function. The protein is primarily expressed in placental and endometrial tissue; however, strong ectopic expression has been detected in ovarian adenocarcinoma, serous cystadenocarcinoma, and other ovarian cancer cells. [provided by RefSeq, Jan 2015]
|
alps
|
|
alpujarra
|
|
alr
|
|
alr1
|
|
alr2
|
|
already
|
|
alreadyreported
|
|
als
|
A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH).|An autosomal dominant inherited form of amyloidosis.|A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)
|
als2
|
amyotrophic lateral sclerosis 2 (juvenile)|The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
|
als2cl
|
ALS2 C-terminal like|
|
als2cr7
|
|
als2uxt
|
|
als3
|
|
als4
|
|
alsassociated
|
|
alscausing
|
|
alsfrontotemporal
|
|
alsin
|
|
alslike
|
|
alslinked
|
|
alsspecific
|
|
alstrom
|
|
alt
|
|
alt1
|
|
alt2
|
|
altassociated
|
|
alter
|
|
alterated
|
|
alteration
|
|
alterations
|
|
alterative
|
|
altered
|
|
alteredhost
|
|
alterednormal
|
|
altering
|
|
alternans
|
|
alternaria
|
|
alternariaexposed
|
|
alternata
|
|
alternate
|
|
alternately
|
|
alternating
|
|
alternation
|
|
alternations
|
|
alternative
|
|
alternativecomplementary
|
|
alternatively
|
|
alternativelyspliced
|
|
alternatives
|
|
alternativve
|
|
alters
|
|
although
|
|
altitide
|
|
altitude
|
|
altitudeassociated
|
|
altitudedependent
|
|
altitudes
|
|
altnf2d9
|
|
altogether
|
|
altpositive
|
|
alts
|
|
altto
|
|
alu
|
|
alualu
|
|
alui
|
|
alul
|
|
alum
|
|
alumediated
|
|
alumina
|
|
aluminium
|
|
aluminum
|
|
alurepeat
|
|
alurepetitive
|
|
alusequences
|
|
aluy
|
|
aluya5
|
|
aluyb8
|
|
aluyb8mutyh
|
|
alveolar
|
|
alveolarcapillary
|
|
alveolarderived
|
|
alveolarization
|
The process whose specific outcome is the progression of the alveolus over time, from its formation to the mature structure. The alveolus is a sac for holding air in the lungs; formed by the terminal dilation of air passageways.
|
alveoli
|
|
alveoliticgranuloma
|
|
alveolitis
|
|
alveolus
|
A tiny, thin-walled, capillary-rich sac in the lungs where the exchange of oxygen and carbon dioxide takes place.
|
always
|
|
alx
|
|
alx1
|
ALX homeobox 1|The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008]
|
alx3
|
|
alx4
|
ALX homeobox 4|This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, mental retardation, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009]
|
alxfpr2
|
|
alxfpr2dependent
|
|
aly
|
|
alyref
|
Aly/REF export factor|The protein encoded by this gene is a heat stable, nuclear protein and functions as a molecular chaperone. It is thought to regulate dimerization, DNA binding, and transcriptional activity of basic region-leucine zipper (bZIP) proteins. [provided by RefSeq, Jul 2008]
|
alz50
|
|
alzeheimers
|
|
alzeimers
|
|
alzheimer
|
|
alzheimerassociated
|
|
alzheimerdisease
|
A dementia that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting in late middle age and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.|A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.|A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)|A dementia which is an incurable disease of unknown cause, starting in late middle age or in old age, that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood, that leads in advanced cases to a profound decline in cognitive and physical functioning, and that is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.
|
alzheimerlike
|
|
alzheimers
|
A dementia that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting in late middle age and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.|A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.|A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)|A dementia which is an incurable disease of unknown cause, starting in late middle age or in old age, that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood, that leads in advanced cases to a profound decline in cognitive and physical functioning, and that is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.
|
alzheimertype
|
|
alzheimiers
|
|
alzhemier
|
|
am1
|
|
am251
|
|
am80
|
|
am80induced
|
|
am9
|
|
amaco
|
|
amacr
|
alpha-methylacyl-CoA racemase|This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011]
|
amacrine
|
|
amam2
|
|
amambp1
|
|
amangostin
|
|
amap1
|
|
amap1cortactin
|
|
amastigotes
|
|
amateur
|
|
amaurosis
|
|
amazingly
|
|
amazon
|
|
amazonas
|
|
amberw
|
|
ambient
|
|
ambiguity
|
|
ambiguous
|
|
ambivalent
|
|
amblyopia
|
|
ambp
|
alpha-1-microglobulin/bikunin precursor|This gene encodes a complex glycoprotein secreted in plasma. The precursor is proteolytically processed into distinct functioning proteins: alpha-1-microglobulin, which belongs to the superfamily of lipocalin transport proteins and may play a role in the regulation of inflammatory processes, and bikunin, which is a urinary trypsin inhibitor belonging to the superfamily of Kunitz-type protease inhibitors and plays an important role in many physiological and pathological processes. This gene is located on chromosome 9 in a cluster of lipocalin genes. [provided by RefSeq, Jul 2008]
|
ambp1
|
|
ambra1
|
autophagy/beclin-1 regulator 1|
|
ambroise
|
|
ambulatory
|
|
amcak
|
|
amcase
|
|
amci
|
|
amd
|
|
amd1
|
adenosylmethionine decarboxylase 1|This gene encodes an important intermediate enzyme in polyamine biosynthesis. The polyamines spermine, spermidine, and putrescine are low-molecular-weight aliphatic amines essential for cellular proliferation and tumor promotion. Multiple alternatively spliced transcript variants have been identified. Pseudogenes of this gene are found on chromosomes 5, 6, 10, X and Y. [provided by RefSeq, Dec 2013]
|
amd3100
|
|
amdassociated
|
|
amdrelated
|
|
amdrisk
|
|
amebiasis
|
A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs.
|
amebic
|
|
amediated
|
|
amegakaryocytic
|
|
amel
|
|
amelanotic
|
|
ameliorate
|
|
ameliorated
|
|
ameliorates
|
|
ameliorating
|
|
amelioration
|
|
ameloblast
|
A cylindrical epithelial cell in the innermost layer of the enamel organ which takes part in the elaboration of the enamel prism. The ameloblasts cover the dental papilla.
|
ameloblastic
|
|
ameloblastin
|
|
ameloblastoma
|
A cell type benign neoplasm that has_material_basis_in odontogenic epithelium.
|
ameloblastomas
|
|
ameloblasts
|
|
amelogenesis
|
The process whose specific outcome is the formation of tooth enamel, occurring in two stages: secretory stage and maturation stage.
|
amelogenin
|
|
amelx
|
|
amelxy
|
|
amenability
|
|
amenable
|
|
amend
|
|
amenorrhea
|
|
amenorrheic
|
|
amenorrhoea
|
|
amer
|
|
amer1
|
APC membrane recruitment protein 1|The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010]
|
amer2eb1apc
|
|
america
|
|
american
|
|
americancaucasian
|
|
americans
|
|
americanus
|
|
americas
|
|
amerindian
|
|
amerindians
|
|
ames
|
|
amevoked
|
|
amf
|
|
amfamfr
|
|
amfher2
|
|
amfnlkmf
|
|
amfr
|
autocrine motility factor receptor, E3 ubiquitin protein ligase|This locus encodes a glycosylated transmembrane receptor. Its ligand, autocrine motility factor, is a tumor motility-stimulating protein secreted by tumor cells. The encoded receptor is also a member of the E3 ubiquitin ligase family of proteins. It catalyzes ubiquitination and endoplasmic reticulum-associated degradation of specific proteins. [provided by RefSeq, Feb 2012]
|
amh
|
anti-Mullerian hormone|Anti-Mullerian hormone is a member of the transforming growth factor-beta gene family which mediates male sexual differentiation. Anti-Mullerian hormone causes the regression of Mullerian ducts which would otherwise differentiate into the uterus and fallopian tubes. Some mutations in the anti-Mullerian hormone result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2008]
|
amhr
|
|
amhr2
|
anti-Mullerian hormone receptor, type II|This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009]
|
amhrii
|
|
ami
|
|
amiacute
|
|
amid
|
|
amidase
|
|
amidation
|
|
amide
|
An amide is a derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group.
|
amides
|
|
amidolytic
|
|
amidoxime
|
|
amidoximes
|
|
amiloride
|
A monocarboxylic acid amide that is N-carbamimidoylpyrazine-2-carboxamide substituted by amino groups at positions 3 and 5 and a chloro group at position 6.
|
amiloridesensitive
|
|
amine
|
A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by hydrocarbyl groups.
|
amineassociated
|
|
aminemodified
|
|
amines
|
|
amino
|
|
aminoacid
|
|
aminoacidic
|
|
aminoacids
|
|
aminoaciduria
|
An increased concentration of an amino acid in the urine.
|
aminoacyl
|
|
aminoacylated
|
|
aminoacylation
|
|
aminoacyltrna
|
|
aminobutyric
|
|
aminochrome
|
|
aminoflavone
|
|
aminoglycoside
|
|
aminoglycosides
|
|
aminonogo
|
|
aminonucleoside
|
|
aminopeptidase
|
|
aminopeptidase1
|
|
aminopeptidases
|
|
aminophospholipid
|
|
aminophospholipids
|
|
aminoproteolytic
|
|
aminoterminal
|
|
aminoterminally
|
|
aminotermini
|
|
aminoterminus
|
|
aminotransferase
|
|
aminotransferase1
|
|
aminotransferases
|
|
amiodarone
|
A member of the class of 1-benzofurans that is 1-benzofuran substituted by a butyl group at position 2 and a 4-[2-(diethylamino)ethoxy]-3,5-diiodobenzoyl group at position 3. It is a cardiovascular drug used for the treatment of cardiac dysrhythmias.
|
amirelated
|
|
amish
|
|
amishmennonites
|
|
amitriptyline
|
An organic tricyclic compound that is 10,11-dihydro-5H-dibenzo[a,d][7]annulene substituted by a 3-(dimethylamino)propylidene group at position 5.
|
amitriptylineinduced
|
|
amkl
|
|
aml
|
Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES.
|
aml1
|
|
aml1a
|
|
aml1b
|
|
aml1eto
|
|
aml1eto9a
|
|
aml1etoassociated
|
|
aml1etocontaining
|
|
aml1etodnmtshdacs
|
|
aml1etoexpressing
|
|
aml1etoinduced
|
|
aml1etopositive
|
|
aml1etos
|
|
aml1evi1
|
|
aml1fog2
|
|
aml1mediated
|
|
aml1mtg8
|
|
aml1positive
|
|
aml1runx1
|
|
aml2
|
|
amlassociated
|
|
amldc
|
|
amlderived
|
|
amlm0
|
|
amlm2
|
|
amlm4
|
|
amlm5
|
|
amlmds
|
|
amlodipine
|
A fully substituted dialkyl 1,4-dihydropyridine-3,5-dicarboxylate derivative, which is used for the treatment of hypertension, chronic stable angina and confirmed or suspected vasospastic angina.
|
amls
|
|
amm
|
|
ammation
|
|
ammatory
|
|
ammonia
|
|
ammonium
|
|
ammoniuminduced
|
|
ammons
|
|
amn
|
amnion associated transmembrane protein|The protein encoded by this gene is a type I transmembrane protein. It is thought to modulate bone morphogenetic protein (BMP) receptor function by serving as an accessory or coreceptor, and thus facilitates or hinders BMP binding. It is known that the mouse AMN gene is expressed in the extraembryonic visceral endoderm layer during gastrulation, but it is found to be mutated in amnionless mouse. The encoded protein has sequence similarity to short gastrulation (Sog) and procollagen IIA proteins in Drosophila. [provided by RefSeq, Jul 2008]
|
amn107
|
|
amnesic
|
|
amnestic
|
|
amniocentesis
|
|
amniochorion
|
Pertaining to the amnion and chorion.
|
amniocytes
|
|
amnion
|
A thin, tough, membranous sac that encloses the embryo or fetus of a mammal, bird, or reptile. It is filled with a serous fluid in which the embryo is suspended.
|
amnionderived
|
|
amnionless
|
|
amnions
|
|
amnioquick
|
|
amniotic
|
|
amoebae
|
|
amoebic
|
|
amoeboid
|
|
amog
|
|
among
|
|
amongst
|
|
amont
|
|
amorphous
|
|
amot
|
angiomotin|This gene belongs to the motin family of angiostatin binding proteins characterized by conserved coiled-coil domains and C-terminal PDZ binding motifs. The encoded protein is expressed predominantly in endothelial cells of capillaries as well as larger vessels of the placenta where it may mediate the inhibitory effect of angiostatin on tube formation and the migration of endothelial cells toward growth factors during the formation of new blood vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
amot130
|
|
amotl1
|
angiomotin like 1|The protein encoded by this gene is a peripheral membrane protein that is a component of tight junctions or TJs. TJs form an apical junctional structure and act to control paracellular permeability and maintain cell polarity. This protein is related to angiomotin, an angiostatin binding protein that regulates endothelial cell migration and capillary formation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
|
amotl2
|
angiomotin like 2|Angiomotin is a protein that binds angiostatin, a circulating inhibitor of the formation of new blood vessels (angiogenesis). Angiomotin mediates angiostatin inhibition of endothelial cell migration and tube formation in vitro. The protein encoded by this gene is related to angiomotin and is a member of the motin protein family. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
|
amotp130
|
|
amotpatjmupp1syx
|
|
amoung
|
|
amount
|
|
amounting
|
|
amounts
|
|
amoxicillin
|
A penicillin in which the substituent at position 6 of the penam ring is a 2-amino-2-(4-hydroxyphenyl)acetamido group.
|
amoxycillin
|
|
amp
|
|
ampa
|
|
ampa3
|
|
ampactivated
|
|
ampainduced
|
|
ampamediated
|
|
ampar
|
|
ampars
|
|
ampatp
|
|
ampatype
|
|
ampd
|
|
ampd1
|
adenosine monophosphate deaminase 1|Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
|
ampdependent
|
|
amph1
|
|
amphetamine
|
An amphetamine, the parent of the class of amphetamines, having the structure 1-phenylpropan-2-amine. It exists as a racemate.
|
amphetamineinduced
|
|
amphetamineregulated
|
|
amphioxus
|
|
amphipathic
|
|
amphiphilic
|
|
amphiphilicity
|
|
amphiphysin
|
|
amphiregulin
|
|
amphiregulinspecific
|
|
amphitelic
|
|
amphitropic
|
|
amphotericin
|
|
amphoterin
|
|
ampindependent
|
|
ampinduced
|
|
ampk
|
|
ampkactivating
|
|
ampkalpha
|
|
ampkalpha1
|
|
ampkalpha2
|
|
ampkalphamediated
|
|
ampkbeta1
|
|
ampkbeta2
|
|
ampkcox2
|
|
ampkdependent
|
|
ampkfoxo3amediated
|
|
ampkgamma3
|
|
ampkgbf1arf1
|
|
ampkgde
|
|
ampkgsk3beta
|
|
ampkinase
|
|
ampkindependent
|
|
ampklitaftnfsf15
|
|
ampkmediated
|
|
ampkmtor
|
|
ampkmtormcl1
|
|
ampkp53
|
|
ampkpaktcox2
|
|
ampkrelated
|
|
ampksirt1
|
|
ampkstimulated
|
|
ampktriggered
|
|
ample
|
|
amplication
|
|
amplicon
|
|
amplicondriven
|
|
amplicons
|
|
amplification
|
|
amplificationactivation
|
|
amplificationdeletion
|
|
amplificationoverexpression
|
|
amplifications
|
|
amplified
|
|
amplifier
|
|
amplifies
|
|
amplify
|
|
amplifying
|
|
amplitude
|
|
amplitudes
|
|
amplkb1
|
|
ampmediated
|
|
amppka
|
|
amppkacreb
|
|
amppnp
|
|
ampprotein
|
|
ampregulated
|
|
ampresponsive
|
|
amps
|
|
ampsensitive
|
|
ampstimulated
|
|
ampulla
|
The constant contraction of ampulla (to extend and retract the tube feet) helps to move a starfish. The ampullae are teeth like structures surrounding the radial canal.
|
ampullary
|
|
amputation
|
|
ampylation
|
|
amr
|
|
amrs2
|
|
ams
|
|
amsacrine
|
|
amsh
|
|
amshlp
|
|
amsterdam
|
|
amsterdamcriteria
|
|
amt
|
aminomethyltransferase|This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
|
amurense
|
|
amy
|
|
amy1
|
|
amy1binding
|
|
amygdala
|
The one of the four basal ganglia in each cerebral hemisphere that is part of the limbic system and consists of an almond-shaped mass of gray matter in the anterior extremity of the temporal lobe.
|
amygdaladependent
|
|
amygdalahippocampus
|
|
amygdalar
|
|
amygdaloid
|
|
amylacea
|
|
amylase
|
|
amylin
|
|
amylinevoked
|
|
amylins
|
|
amyloid
|
|
amyloida
|
|
amyloidassociated
|
|
amyloidb
|
|
amyloidbeta
|
|
amyloidbeta140
|
|
amyloidbeta142
|
|
amyloidbeta40
|
|
amyloidbeta42
|
|
amyloidbetadependent
|
|
amyloidbetainduced
|
|
amyloidbetamediated
|
|
amyloidbetapeptide
|
|
amyloidforming
|
|
amyloidgenesis
|
|
amyloidinduced
|
|
amyloidlike
|
|
amyloidogenesis
|
|
amyloidogenic
|
|
amyloidogenicburden
|
|
amyloidogenicity
|
|
amyloidogenicprone
|
|
amyloidoses
|
|
amyloidosis
|
An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues.
|
amyloidotic
|
|
amyloidrelated
|
|
amyloids
|
|
amyloig
|
|
amylotrophic
|
|
amyopathic
|
|
amyotrophic
|
|
amyotrophy
|
|
amyotropic
|
|
amytrophic
|
|
an11
|
|
ana
|
|
anabolic
|
|
anabolism
|
The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones.
|
anacardic
|
|
anacetrapib
|
|
anad
|
|
anadysplasia
|
|
anaemia
|
|
anaemic
|
|
anaerobes
|
|
anaerobic
|
|
anaesthesia
|
|
anagen
|
The growth phase of the hair cycle. Lasts, for example, about 3 to 6 years for human scalp hair.
|
anagrelide
|
A 1,5-dihydroimidazo[2,1-]quinazoline having an oxo substituent at the 2-position and chloro substituents at the 6- and 7-positions.
|
anakinra
|
|
anal
|
|
analgesia
|
|
analgesic
|
|
analgesics
|
|
analog
|
|
analogous
|
|
analogs
|
|
analogue
|
|
analogues
|
|
analogy
|
|
analyis
|
|
analys
|
|
analys9s
|
|
analyse
|
|
analysed
|
|
analyses
|
|
analysing
|
|
analysisof
|
|
analyte
|
|
analytes
|
|
analytic
|
|
analytical
|
|
analyze
|
|
analyzed
|
|
analyzedin
|
|
analyzes
|
|
analyzing
|
|
anamorsin
|
|
anandamide
|
A fatty amide obtained by the formal condensation of arachidonic acid with ethanolamine.
|
anandamideinduced
|
|
anandamidestimulated
|
|
ananlsis
|
|
anapc1dependent
|
|
anaphase
|
The cell cycle phase, following metaphase, during which the chromosomes separate and migrate towards the poles of the spindle.
|
anaphaseinhibitory
|
|
anaphasepromoting
|
|
anaphylactic
|
|
anaphylatoxin
|
|
anaphylaxis
|
|
anaplasia
|
|
anaplasma
|
|
anaplasstic
|
|
anaplastic
|
|
anaplerosis
|
|
anastomosis
|
|
anastrozole
|
A 1,2,4-triazole compound having a 3,5-bis(2-cyano-2-propyl)benzyl group at the 1-position.
|
anatolia
|
|
anatolian
|
|
anatomic
|
|
anatomical
|
|
anatomically
|
|
anatomoclinical
|
|
anatomy
|
|
anaylsis
|
|
anc
|
|
anca
|
|
ancaassociated
|
|
ancainduced
|
|
ancca
|
|
ancestor
|
|
ancestors
|
|
ancestral
|
|
ancestralspecific
|
|
ancestries
|
|
ancestry
|
|
ancestryinformative
|
|
anchor
|
|
anchorage
|
|
anchoragedependent
|
|
anchorageindependence
|
|
anchorageindependent
|
|
anchored
|
|
anchoring
|
Interacting selectively and non-covalently with both a protein or protein complex and a membrane, in order to maintain the localization of the protein at a specific location on the membrane.
|
anchors
|
|
anchr
|
|
ancient
|
|
ancillary
|
|
anco
|
|
anco1
|
|
ancr
|
|
and1
|
|
and7
|
|
anda
|
|
andattenuated
|
|
andean
|
|
andermanns
|
|
anderogen
|
|
andersen
|
|
andersentawil
|
|
anderson
|
|
andes
|
|
andeven
|
|
andf
|
|
andhra
|
|
andmxi2
|
|
andor
|
|
andpdgfra
|
|
androge
|
|
androgen
|
|
androgenandrogen
|
|
androgenar
|
|
androgendependence
|
|
androgendependent
|
|
androgendepleted
|
|
androgendepletionindependent
|
|
androgendeprivation
|
|
androgenestrogen
|
|
androgenetic
|
|
androgenic
|
|
androgenindependence
|
|
androgenindependent
|
|
androgeninduced
|
|
androgeninduction
|
|
androgeninsensitive
|
|
androgenmediated
|
|
androgenmetaboliizing
|
|
androgenmodulated
|
|
androgennonresponsive
|
|
androgenprocessing
|
|
androgenreceptor
|
|
androgenreceptordependent
|
|
androgenreceptordriven
|
|
androgenreceptormediated
|
|
androgenregulated
|
|
androgenrelated
|
|
androgenresponse
|
|
androgenresponsive
|
|
androgenresponsiveness
|
|
androgens
|
|
androgenselective
|
|
androgensensitive
|
|
androgensensitivity
|
|
androgenstat3
|
|
androgenstimulated
|
|
androgentarget
|
|
androgentreated
|
|
andrographitis
|
|
andrographolide
|
A labdane diterpenoid isolated from the leaves and roots of Andrographis paniculata that exhibits anti-HIV, anti-inflammatory and antineoplastic properties.
|
andrographolidemediated
|
|
android
|
|
androstane
|
|
androstanediol
|
|
androstenedione
|
The chemical reactions and pathways resulting in the formation of androst-4-ene-3,17-dione.
|
androstenone
|
|
androsterone
|
An androstanoid that is 5alpha-androstane having a hydroxy substituent at the 3alpha-position and an oxo group at the 17-position. It is a metabolite of dehydroepiandrosterone .
|
andrunx1
|
|
ands
|
|
andthe
|
|
ane
|
|
aneassociated
|
|
anembryonic
|
|
anemia
|
A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin.
|
anemiabrca
|
|
anemiafagene
|
|
anemias
|
|
anemic
|
|
anemone
|
|
anemonin
|
A butenolide that has formula C10H8O4.
|
anencephaly
|
|
anergic
|
|
anergy
|
|
anesthesia
|
|
anesthetic
|
|
anestheticbinding
|
|
anesthetics
|
|
anesthetised
|
|
aneuploid
|
|
aneuploidies
|
|
aneuploidization
|
|
aneuploidy
|
chromosome count is not an exact multiple of the haploid number
|
aneuploidyassociated
|
|
aneuploidytolerating
|
|
aneurysm
|
Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
|
aneurysmal
|
|
aneurysmdissection
|
|
aneurysms
|
|
aneusomy
|
|
anf
|
|
anfh
|
|
anfinsen
|
|
ang
|
angiogenin, ribonuclease, RNase A family, 5|The protein encoded by this gene is an exceedingly potent mediator of new blood vessel formation. It hydrolyzes cellular tRNAs resulting in decreased protein synthesis and is similar to pancreatic ribonuclease. In addition, the mature peptide has antimicrobial activity against some bacteria and fungi, including S. pneumoniae and C. albicans. Alternative splicing results in two transcript variants encoding the same protein. This gene and the gene that encodes ribonuclease, RNase A family, 4 share promoters and 5' exons. Each gene splices to a unique downstream exon that contains its complete coding region. [provided by RefSeq, Aug 2014]
|
ang1
|
|
ang112
|
|
ang17
|
|
ang1ang2
|
|
ang1ang2tie2
|
|
ang1induced
|
|
ang1tie2
|
|
ang1tie2mediated
|
|
ang2
|
|
ang21
|
|
ang2ang1
|
|
ang2angiopoietin
|
|
ang2tie2
|
|
ang2tie2pathway
|
|
ang4
|
|
angaite
|
|
angami
|
|
angbinding
|
|
angeles
|
|
angelman
|
|
anger
|
|
angerrelated
|
|
angiectatic
|
|
angii
|
|
angiiat1
|
|
angiierk
|
|
angiiinduced
|
|
angiimediated
|
|
angiingfibnurr1
|
|
angina
|
|
angio
|
|
angioarchitecture
|
|
angioassociated
|
|
angiocidin
|
|
angiodema
|
|
angiodysplasias
|
|
angioedema
|
condition similar to urticarai but with swelling occuring in a lower layer of the dermis as well as in the subcutis
|
angiofibroma
|
|
angiofibromas
|
Angiofibroma consist of many often dilated vessels.
|
angiogenesis
|
Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
|
angiogenesisangiostasis
|
|
angiogenesisassociated
|
|
angiogenesisdependent
|
|
angiogenesisfgf2fibroblast
|
|
angiogenesisgrowth
|
|
angiogenesispromoting
|
|
angiogenesisrelated
|
|
angiogenetic
|
|
angiogenic
|
|
angiogenically
|
|
angiogenin
|
|
angiogenin1
|
|
angiogensis
|
|
angiographic
|
|
angiographical
|
|
angiographically
|
|
angiography
|
|
angiographycally
|
|
angioid
|
|
angioimmunoblastic
|
|
angioinhibitory
|
|
angiolymphatic
|
|
angioma
|
|
angiomas
|
|
angiomatoid
|
|
angiomirs
|
|
angiomotin
|
|
angiomotinlike
|
|
angiomotinrelated
|
|
angiomyogenesis
|
|
angiomyolipoma
|
A cell type benign neoplasm that from perivascular epithelioid cells.
|
angiomyolipomas
|
|
angiopaathy
|
|
angiopathies
|
|
angiopathy
|
|
angiopathyrelated
|
|
angioplasties
|
|
angioplasty
|
|
angiopoietin
|
|
angiopoietin1
|
|
angiopoietin1induced
|
|
angiopoietin2
|
|
angiopoietinlike
|
|
angiopoietinlike4
|
|
angiopoietins
|
|
angiopoietintie2
|
|
angiosarcoma
|
A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma.
|
angiosarcomas
|
|
angiostasis
|
|
angiostatic
|
|
angiostatically
|
|
angiostatin
|
|
angiostatinlike
|
|
angiostatins
|
|
angiostrongyliasis
|
A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis.
|
angiostrongylus
|
|
angioteinsin
|
|
angiotensin
|
|
angiotensin1
|
|
angiotensin17
|
|
angiotensinconverting
|
|
angiotensinconvertingenzyme
|
|
angiotensindependent
|
|
angiotensinforming
|
|
angiotensinii
|
|
angiotensinogen
|
|
angiotensinogen6
|
|
angiotensinogenrenin
|
|
angiotensinreceptor
|
|
angiotensins
|
|
angiotension
|
|
angiotensiongen
|
|
angiotropic
|
|
angle
|
|
angleclosure
|
|
angles
|
|
angloceltic
|
|
angola
|
|
angolan
|
|
angpt1
|
angiopoietin 1|Angiopoietins are proteins with important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The protein encoded by this gene is a secreted glycoprotein that activates the receptor by inducing its tyrosine phosphorylation. It plays a critical role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme and inhibits endothelial permeability. The protein also contributes to blood vessel maturation and stability, and may be involved in early development of the heart. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2010]
|
angpt12
|
|
angpt1angpt2
|
|
angpt2
|
angiopoietin 2|The protein encoded by this gene is an antagonist of angiopoietin 1 (ANGPT1) and endothelial TEK tyrosine kinase (TIE-2, TEK). The encoded protein disrupts the vascular remodeling ability of ANGPT1 and may induce endothelial cell apoptosis. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
angptl
|
|
angptl1
|
angiopoietin-like 1|Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. The protein encoded by this gene is another member of the angiopoietin family that is widely expressed in adult tissues with mRNA levels highest in highly vascularized tissues. This protein was found to be a secretory protein that does not act as an endothelial cell mitogen in vitro. [provided by RefSeq, Jul 2008]
|
angptl2
|
angiopoietin-like 2|Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. ANGPTL2 protein is a secreted glycoprotein with homology to the angiopoietins and may exert a function on endothelial cells through autocrine or paracrine action. [provided by RefSeq, Jul 2008]
|
angptl3
|
angiopoietin-like 3|This gene encodes a member of a family of secreted proteins that function in angiogenesis. The encoded protein, which is expressed predominantly in the liver, is further processed into an N-terminal coiled-coil domain-containing chain and a C-terminal fibrinogen chain. The N-terminal chain is important for lipid metablism, while the C-terminal chain may be involved in angiogenesis. Mutations in this gene cause familial hypobetalipoproteinemia type 2. [provided by RefSeq, Feb 2013]
|
angptl3induced
|
|
angptl4
|
angiopoietin-like 4|This gene encodes a glycosylated, secreted protein containing a C-terminal fibrinogen domain. The encoded protein is induced by peroxisome proliferation activators and functions as a serum hormone that regulates glucose homeostasis, lipid metabolism, and insulin sensitivity. This protein can also act as an apoptosis survival factor for vascular endothelial cells and can prevent metastasis by inhibiting vascular growth and tumor cell invasion. The C-terminal domain may be proteolytically-cleaved from the full-length secreted protein. Decreased expression of this gene has been associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. This gene was previously referred to as ANGPTL2 but has been renamed ANGPTL4. [provided by RefSeq, Sep 2013]
|
angptl5
|
angiopoietin-like 5|
|
angregulated
|
|
angrem104
|
|
angry
|
|
angstrom
|
|
angstroms
|
|
angtie
|
|
angtie2
|
|
angular
|
|
anhedonia
|
Inability to experience pleasure activities usually found enjoyable.
|
anhidrosis
|
OMIM mapping confirmed by DO. [SN].
|
anhidrotic
|
|
anhui
|
|
anhydrase
|
|
anhydraselike
|
|
anhydraserelated
|
|
anhydrotic
|
|
ani
|
|
anilinoquinazoline
|
|
anillin
|
|
anillinect2
|
|
anillinracgap50c
|
|
animal
|
Any of a kingdom (Animalia) of living things including many-celled organisms and often many of the single-celled ones (as protozoans) that typically differ from plants in having cells without cellulose walls, in lacking chlorophyll and the capacity for photosynthesis, in requiring more complex food materials (as proteins), in being organized to a greater degree of complexity, and in having the capacity for spontaneous movement and rapid motor responses to stimulation.
|
animalis
|
|
animals
|
|
animo
|
|
anintrinsic
|
|
anion
|
|
anionbinding
|
Interacting selectively and non-covalently with anions, charged atoms or groups of atoms with a net negative charge.
|
aniondicarboxylate
|
|
anionexchange
|
|
anionhydrogen
|
|
anionic
|
|
anions
|
|
anionselective
|
|
aniridia
|
OMIM mapping confirmed by DO. [SN].
|
anisomycin
|
|
anisotropic
|
|
anisotropy
|
|
ank
|
|
ank1
|
ankyrin 1, erythrocytic|Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008]
|
ank1e
|
|
ank2
|
ankyrin 2, neuronal|This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011]
|
ank3
|
ankyrin 3, node of Ranvier (ankyrin G)|Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
|
anka
|
|
ankh
|
ANKH inorganic pyrophosphate transport regulator|This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]
|
ankhd1
|
ankyrin repeat and KH domain containing 1|This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. The protein is thought to function as a scaffolding protein, and it may be involved in the regulation of caspases and thereby play an antiapoptotic role in cell survival. Alternative splicing results in multiple transcript variants, one of which generates a fusion transcript (MASK-BP3) with the downstream eIF4E-binding protein 3 (EIF4EBP3) gene, resulting in a protein comprised of the ANKHD1 sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq, Sep 2010]
|
ankk
|
|
ankk1
|
|
ankk1drd2
|
|
ankk1taqia
|
|
ankle
|
|
anklebrachial
|
|
ankolysing
|
|
ankra
|
|
ankrd
|
|
ankrd1
|
ankyrin repeat domain 1 (cardiac muscle)|The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008]
|
ankrd11
|
ankyrin repeat domain 11|This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012]
|
ankrd13a
|
ankyrin repeat domain 13A|
|
ankrd17
|
ankyrin repeat domain 17|This gene encodes a protein with ankyrin repeats, which are associated with protein-protein interactions. Studies in mice suggest that this protein is involved in liver development. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
|
ankrd1carp
|
|
ankrd2
|
ankyrin repeat domain 2 (stretch responsive muscle)|This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
|
ankrd28
|
ankyrin repeat domain 28|
|
ankrd55
|
ankyrin repeat domain 55|
|
ankrd7
|
ankyrin repeat domain 7|
|
anks
|
|
anks3sam
|
|
anks3samanks6sam
|
|
anks6
|
ankyrin repeat and sterile alpha motif domain containing 6|
|
anks6sam
|
|
anksh3
|
|
ankyloblepharon
|
Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.
|
ankyloglossia
|
Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue.
|
ankylosing
|
|
ankylosis
|
Ankylosis is a arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself.
|
ankyrin
|
|
ankyrin1
|
|
ankyrinb
|
|
ankyrinbdependent
|
|
ankyrinbg
|
|
ankyrinbinding
|
Interacting selectively and non-covalently with ankyrin, a 200 kDa cytoskeletal protein that attaches other cytoskeletal proteins to integral membrane proteins.
|
ankyring
|
|
ankyrininsp3
|
|
ankyrinlike
|
|
ankyrinmembrane
|
|
ankyrinr
|
|
ankyrinrepeat
|
|
ankyrinrepeatcontaining
|
|
anlage
|
|
anlagen
|
|
anlalysis
|
|
anlaysis
|
|
anll
|
Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES.
|
anln
|
anillin, actin binding protein|This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
|
anlysis
|
|
annealing
|
|
annexes
|
|
annexin
|
|
annexin1
|
|
annexin2
|
|
annexin3
|
|
annexina1
|
|
annexinii
|
|
annexins
|
|
annexinv
|
|
annihilation
|
|
annonacin
|
|
annotated
|
|
annotation
|
|
annotations
|
|
annual
|
|
annular
|
|
annulus
|
The extracellular matrix that is a regularly spaced circumferential ridge present in the cortical region of the cuticle. Annuli are delineated by annular furrows and are present throughout the cuticle with the exception of lateral regions where longitudinal alae are present.
|
ano1
|
anoctamin 1, calcium activated chloride channel|
|
ano10
|
anoctamin 10|The transmembrane protein encoded by this gene is a member of a family of calcium-activated chloride channels. Defects in this gene may be a cause of autosomal recessive spinocerebellar ataxia-10. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]
|
anoctamin
|
|
anodal
|
|
anogenital
|
|
anoikis
|
Apoptosis triggered by inadequate or inappropriate adherence to substrate e.g. after disruption of the interactions between normal epithelial cells and the extracellular matrix.
|
anoikisinducing
|
|
anoikislike
|
|
anoikisresistant
|
|
anomalies
|
|
anomalous
|
|
anomaly
|
|
anonsecretors
|
|
anonymous
|
|
anopheles
|
|
anophthalmia
|
Absence of the globe or eyeball.
|
anophthalmiamicrophthalmia
|
|
anorchia
|
|
anorectal
|
|
anorectic
|
|
anorectum
|
|
anorexia
|
A lack or loss of appetite for food (as a medical condition).
|
anorexiacachexia
|
|
anorexic
|
|
anorexigenic
|
|
anosmia
|
An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
|
anosmin1
|
|
another
|
|
anothers
|
|
anova
|
|
anovel
|
|
anovulation
|
|
anovulatory
|
|
anoxia
|
absence or almost complete absence of oxygen from inspired gases, in blood or tissues
|
anoxiainduced
|
|
anoxiareoxygenation
|
|
anoxic
|
|
anp
|
|
anp32a
|
acidic (leucine-rich) nuclear phosphoprotein 32 family, member A|
|
anp32b
|
acidic (leucine-rich) nuclear phosphoprotein 32 family, member B|
|
anpep
|
alanyl (membrane) aminopeptidase|Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. [provided by RefSeq, Jul 2008]
|
anpgca
|
|
anplastic
|
|
anpmediated
|
|
anpnpra
|
|
anril
|
|
anrilmediated
|
|
ans
|
|
anscriptional
|
|
anserine
|
A dipeptide comprising of beta-alanine and 3-methyl-L-histidine units.
|
answer
|
|
ant
|
|
ant1
|
|
ant2
|
|
ant3
|
|
antagomir
|
|
antagonises
|
|
antagonising
|
|
antagonism
|
|
antagonist
|
|
antagonistbound
|
|
antagonistic
|
|
antagonistically
|
|
antagonistil1ra
|
|
antagonistmediated
|
|
antagonists
|
|
antagonize
|
|
antagonized
|
|
antagonizes
|
|
antagonizing
|
|
antecedent
|
|
antedates
|
|
antemortem
|
|
antenatal
|
|
anteneonatal
|
|
antenna
|
One of a pair of slender movable segmented sensory organs on the head of insects, myriapods, and crustaceans.
|
antepartum
|
|
anterior
|
|
anterograde
|
|
anteroposterior
|
|
anth
|
|
anthelmintics
|
|
anthocyanins
|
Any flavonoid that is a glycoside derivative of anthocyanidin. They are water-souluble plant pigments that generally occur as acidic salts exhibiting bright colours.
|
anthracis
|
|
anthracycline
|
|
anthracyclinebased
|
|
anthracyclinecontaining
|
|
anthracyclineinduced
|
|
anthracyclinemitomycincontaining
|
|
anthracyclinerelated
|
|
anthracyclines
|
|
anthracyclinetaxanebased
|
|
anthrax
|
|
anthropological
|
|
anthropology
|
|
anthropometric
|
|
anthropometrics
|
|
anthropometry
|
Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body.
|
anti
|
|
anti41bb
|
|
antia1
|
|
antiachr
|
|
antiadenoviral
|
|
antiadhesion
|
|
antiadhesive
|
|
antiadipogenic
|
|
antiageing
|
|
antiaggregation
|
|
antiaggression
|
|
antiaggressive
|
|
antiaging
|
|
antiallergic
|
|
antialpha2
|
|
antialpha5beta1
|
|
antialphaiibbeta3
|
|
antialphav
|
|
antiamyloidogenic
|
|
antianabolic
|
|
antiandrogen
|
|
antiandrogenic
|
|
antiandrogens
|
|
antiangiogenesis
|
|
antiangiogenic
|
|
antiangiogenicantitumor
|
|
antiannexin
|
|
antiapoa1
|
|
antiapoptosis
|
Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
|
antiapoptotic
|
|
antiapoptoticcytoprotective
|
|
antiapoptotics
|
|
antiapoptotitc
|
|
antiapototic
|
|
antiaqp4
|
|
antiaquaporin
|
|
antiarrhythmic
|
|
antiatherogenesis
|
|
antiatherogenic
|
|
antiatherosclerotic
|
|
antiautophagic
|
|
antibacteria
|
|
antibacterial
|
|
antibax
|
|
antibcl2
|
|
antibeta1
|
|
antibeta2
|
|
antibeta2gp1
|
|
antibeta2gpi
|
|
antibeta2gpibeta2gpi
|
|
antibeta2gpibeta2gpiinduced
|
|
antibiotic
|
|
antibioticinduced
|
|
antibioticresistant
|
|
antibiotics
|
|
antibodies
|
An antibody function (or antigen binding function) is an infection-fighting protein molecule in blood or secretory fluids that tags, neutralizes, and helps destroy pathogenic microorganisms such as bacteria, viruses and toxins.
|
antibodiesacpa
|
|
antibodiesnegative
|
|
antibodiespositive
|
|
antibody
|
An antibody function (or antigen binding function) is an infection-fighting protein molecule in blood or secretory fluids that tags, neutralizes, and helps destroy pathogenic microorganisms such as bacteria, viruses and toxins.
|
antibodyantigen
|
|
antibodyassociated
|
|
antibodyavidin
|
|
antibodybased
|
|
antibodybinding
|
|
antibodyblockade
|
|
antibodybound
|
|
antibodycoated
|
|
antibodydependent
|
|
antibodydrug
|
|
antibodyfusion
|
|
antibodyindependent
|
|
antibodyinduced
|
|
antibodymediated
|
|
antibodynegative
|
|
antibodypositive
|
|
antibodyreactive
|
|
antibodysecreting
|
|
antibone
|
|
antibpde
|
|
antibreast
|
|
antic
|
|
antic1q
|
|
antica125
|
|
antica153
|
|
anticalcific
|
|
anticancer
|
|
anticancerdrug
|
|
anticancerstem
|
|
anticandidal
|
|
anticaner
|
|
anticarcinogenic
|
|
anticardiolipin
|
|
anticatabolic
|
|
anticcp
|
|
anticcpnegative
|
|
anticcppositive
|
|
anticd115
|
|
anticd11d
|
|
anticd14
|
|
anticd20
|
|
anticd25
|
|
anticd28
|
|
anticd3
|
|
anticd3cd28
|
|
anticd4
|
|
anticd40
|
|
anticd44
|
|
anticd45
|
|
anticd45ro
|
|
anticd79b
|
|
anticenpaspecific
|
|
anticenpb
|
|
anticentromere
|
|
antichlamydial
|
|
anticholinergic
|
|
antichronic
|
|
antichymotrypsin
|
|
anticipate
|
|
anticipated
|
|
anticipates
|
|
anticipating
|
|
anticipation
|
|
anticitrullinated
|
|
anticitrulline
|
|
anticlonogenic
|
|
anticoagulant
|
An agent that prevents blood clotting.
|
anticoagulants
|
|
anticoagulated
|
|
anticoagulation
|
|
anticoagulationrelated
|
|
anticodon
|
|
anticomplement
|
|
anticontactinassociated
|
|
anticonvulsant
|
A drug used to prevent seizures or reduce their severity.
|
anticonvulsants
|
|
anticoronaviral
|
|
anticorrelated
|
|
anticryptococcal
|
|
antictla4
|
|
anticxcr4
|
|
anticyclic
|
|
anticyp2d6
|
|
anticytochrome
|
|
anticytomegalovirus
|
|
anticytotoxicity
|
|
antidepressant
|
|
antidepressantinduced
|
|
antidepressants
|
|
antidepressive
|
|
antidiabetes
|
|
antidiabetic
|
|
antidiabetics
|
|
antidiarrheal
|
|
antidiuresis
|
Any process that decreases the amount of urine excreted from the body over a unit of time.
|
antidiuretic
|
|
antidna
|
|
antidonor
|
|
antidote
|
|
antidouble
|
|
antidp
|
|
antidr5
|
|
antidromic
|
|
antidsdna
|
|
antidsg3
|
|
antidyslipidemic
|
|
antiegf
|
|
antiegfr
|
|
antiegfrmab
|
|
antielastase
|
|
antiemetic
|
|
antiemtbased
|
|
antiena
|
|
antiendothelial
|
|
antiepidermal
|
|
antiepileptic
|
|
antiestrogen
|
|
antiestrogenic
|
|
antiestrogenresistance
|
|
antiestrogenresistant
|
|
antiestrogens
|
|
antifactor
|
|
antifas
|
|
antifasinduced
|
|
antifc
|
|
antifibrinolysis
|
|
antifibrinolytic
|
|
antifibrogenic
|
|
antifibrosis
|
|
antifibrotic
|
|
antifolate
|
An antimetabolite that impairs the action of folic acids
|
antifolates
|
|
antifungal
|
|
antigad65
|
|
antigalectin
|
|
antigalectin9
|
|
antiganglioside
|
|
antigastric
|
|
antigbm
|
|
antigen
|
Any substance that stimulates an immune response in the body, such as through antibody production or by presentation to a T-cell receptor after binding to a major histocompability complex (MHC).
|
antigen1
|
|
antigen125
|
|
antigen199
|
|
antigen2
|
|
antigen3
|
|
antigen4
|
|
antigen4dependent
|
|
antigena0201
|
|
antigena11
|
|
antigenactivated
|
|
antigenbinding
|
Interacting selectively and non-covalently with an antigen, any substance which is capable of inducing a specific immune response and of reacting with the products of that response, the specific antibody or specifically sensitized T-lymphocytes, or both. Binding may counteract the biological activity of the antigen.
|
antigenbw4i80
|
|
antigencoupled
|
|
antigendependent
|
|
antigendr
|
|
antigendriven
|
|
antigene
|
|
antigenexperienced
|
|
antigeng
|
|
antigenhuman
|
|
antigenic
|
|
antigenicity
|
|
antigenindependent
|
|
antigeninduced
|
|
antigeninteracting
|
|
antigenmediated
|
|
antigennonspecific
|
|
antigenome
|
|
antigenomic
|
|
antigenoverexpressing
|
|
antigenpcnain
|
|
antigenpositive
|
|
antigenpositve
|
|
antigenpresenting
|
|
antigenprocessing
|
The process in which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex.
|
antigenpulsed
|
|
antigenrecognition
|
|
antigenrelated
|
|
antigenresponsive
|
|
antigenrestricted
|
|
antigens
|
|
antigenspecific
|
|
antigenstimulated
|
|
antiglioma
|
|
antiglomerular
|
|
antiglycoprotein
|
|
antigp130
|
|
antigp210
|
|
antigrowth
|
|
antigsssen
|
|
antihbs
|
|
antihbv
|
|
antihcv
|
|
antihead
|
|
antihelicobacter
|
|
antihepatitis
|
|
antiher2
|
|
antihexon
|
|
antihistamines
|
|
antihistaminic
|
|
antihiv
|
|
antihiv1
|
|
antihla
|
|
antihmgbhmgb2
|
|
antihna3a
|
|
antihnrnp
|
|
antihormonal
|
|
antihormone
|
|
antihost
|
|
antihp1
|
|
antihsp60
|
|
antihsp65
|
|
antihsp70
|
|
antihsv
|
|
antihuman
|
|
antihyperglycemic
|
|
antihypertensive
|
|
antihypertensives
|
|
antiifngamma
|
|
antiifnomega
|
|
antiige
|
|
antiigfirinsr
|
|
antiigm
|
|
antiigminduced
|
|
antiiia
|
|
antiil17f
|
|
antiil6
|
|
antiil8
|
|
antiimmunity
|
|
antiinfectious
|
|
antiinfective
|
|
antiinflammation
|
|
antiinflammatory
|
|
antiinflammatoryantithrombotic
|
|
antiinflammatoryregulatory
|
|
antiinfluenza
|
|
antiinsulin
|
|
antiintegrin
|
|
antiinvasion
|
|
antiinvasive
|
|
antiinvasiveness
|
|
antiischemic
|
|
antiislet
|
|
antijo1
|
|
antikir2dl4
|
|
antiku
|
|
antila
|
|
antilaryngocarcinoma
|
|
antilassb
|
|
antileptin
|
|
antileukaemic
|
|
antileukemia
|
|
antileukemic
|
|
antilfa1based
|
|
antililrb1
|
|
antilipolytic
|
|
antilymphangiogenic
|
|
antilyve1
|
|
antim3r
|
|
antimad2
|
|
antimalarial
|
|
antimalarials
|
|
antimalignant
|
|
antimda5
|
|
antimetabolite
|
|
antimetabolites
|
|
antimetastasis
|
|
antimetastatic
|
|
antimicrobial
|
|
antimicrobials
|
|
antimicrotubule
|
|
antimigraine
|
|
antimigratory
|
|
antimir
|
|
antimir130a
|
|
antimir16
|
|
antimir182
|
|
antimir191
|
|
antimir197
|
|
antimir221
|
|
antimir3713
|
|
antimirs
|
|
antimitochondrial
|
|
antimitogenic
|
|
antimitotic
|
|
antimm
|
|
antimony
|
|
antimpo
|
|
antimullerian
|
|
antimutagenicity
|
|
antimycin
|
|
antimycobacterial
|
|
antimycobacterium
|
|
antimyeloma
|
|
antimyosin
|
|
antinatriuresis
|
|
antinecrotic
|
|
antineoplastic
|
|
antineoplastics
|
|
antineutrophil
|
|
antinociception
|
|
antinociceptive
|
|
antinuclear
|
|
antinxp2
|
|
antinyeso1
|
|
antiobesity
|
|
antiobesityantidiabetes
|
|
antioestrogen
|
|
antioncogene
|
|
antioncogenic
|
|
antioncomirs
|
|
antioncoprotein
|
|
antiopn1lw
|
|
antiopsonic
|
|
antiosteosarcoma
|
|
antioxidant
|
A substance that opposes oxidation or inhibits reactions brought about by dioxygen or peroxides. In European countries, E-numbers for permitted antioxidant food additives are from E 300 to E 324.
|
antioxidantonly
|
|
antioxidantpigment
|
|
antioxidantresponse
|
|
antioxidantresponseelementmediated
|
|
antioxidantresponsive
|
|
antioxidants
|
|
antioxidase
|
|
antioxidation
|
|
antioxidative
|
|
antioxidativenitrative
|
|
antiparallel
|
|
antiparasitic
|
|
antipause
|
|
antipc
|
|
antipecamnanocarriers
|
|
antipenicillin
|
|
antipeptide
|
|
antipermeability
|
|
antiphospholipid
|
|
antipig
|
|
antiplasmin
|
|
antiplatelet
|
|
antiplgf
|
|
antipodoplanin
|
|
antiporcine
|
|
antiport
|
|
antiporter
|
|
antiporters
|
|
antipr3
|
|
antiprogestational
|
|
antiprogestin
|
|
antiprogrammed
|
|
antiproliferating
|
|
antiproliferation
|
|
antiproliferative
|
|
antiprotease
|
|
antiproteases
|
|
antiprotein
|
|
antiproteinuric
|
|
antiprotozoal
|
|
antipsychotic
|
|
antipsychoticfree
|
|
antipsychoticinduced
|
|
antipsychoticnaive
|
|
antipsychotics
|
|
antipv1
|
|
antirage
|
|
antirankligand
|
|
antiras
|
|
antirecombinase
|
|
antirecombinogenic
|
|
antirejection
|
|
antiremodelling
|
|
antirepressor
|
|
antiresorptive
|
|
antiret
|
|
antiretroviral
|
|
antirheumatic
|
|
antirheumatoid
|
|
antirhuepo
|
|
antiribp0
|
|
antiribp1
|
|
antiribp2
|
|
antirnap
|
|
antiro
|
|
antiro52
|
|
antirola
|
|
antirolanegative
|
|
antirossa
|
|
antirplp0
|
|
antiruvbl12
|
|
antisaccade
|
|
antisaccharomyces
|
|
antiscl70
|
|
antisecretory
|
|
antisenescence
|
|
antisense
|
|
antisenseablated
|
|
antisensehmg1
|
|
antisensemediated
|
|
antiseptic
|
|
antisera
|
|
antisheath
|
|
antisigma
|
|
antisignal
|
|
antisilencing
|
|
antism
|
|
antisocial
|
|
antisperm
|
|
antissa
|
|
antissaro
|
|
antistress
|
|
antisumo
|
|
antisumo1immunocapture
|
|
antisynthetase
|
|
antitb
|
|
antitge
|
|
antithrombin
|
|
antithrombinbased
|
|
antithrombinbinding
|
|
antithrombinheparin
|
|
antithrombinindependent
|
|
antithrombins
|
|
antithrombogenic
|
|
antithrombotic
|
|
antithymocyte
|
|
antithyroid
|
|
antitif1gamma
|
|
antitim3
|
|
antitissue
|
|
antititin
|
|
antitlr3
|
|
antitlr4
|
|
antitnf
|
|
antitnfalpha
|
|
antitopo
|
|
antitopoisomerase
|
|
antitopoisomerasepositive
|
|
antitpo
|
|
antitransforming
|
|
antitransglutaminase
|
|
antitrophoblast
|
|
antitrypsin
|
|
antittg
|
|
antitubercular
|
|
antituberculosis
|
|
antituberculous
|
|
antitumor
|
|
antitumoral
|
|
antitumorigenic
|
|
antitumour
|
|
antiu1snrnp
|
|
antivascular
|
|
antivegf
|
|
antivegfa
|
|
antiviral
|
|
antivirals
|
|
antivirus
|
|
antivn
|
|
antivwf
|
|
antiwnt5a
|
|
antixa
|
|
antiyoassociated
|
|
antizyme
|
|
antizymebinding
|
|
antleybixler
|
|
antofloxacin
|
|
antogonizes
|
|
antral
|
|
antralisation
|
|
antrocin
|
|
antrodia
|
|
antrum
|
|
antxr2
|
anthrax toxin receptor 2|This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
|
antxr2dependent
|
|
anulus
|
|
anus
|
The posterior opening of the alimentary canal.
|
anx
|
|
anx2
|
|
anx7
|
|
anxa1
|
annexin A1|This gene encodes a membrane-localized protein that binds phospholipids. This protein inhibits phospholipase A2 and has anti-inflammatory activity. Loss of function or expression of this gene has been detected in multiple tumors. [provided by RefSeq, Dec 2014]
|
anxa11
|
annexin A11|This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain the calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified. [provided by RefSeq, May 2013]
|
anxa1induced
|
|
anxa2
|
annexin A2|This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions as an autocrine factor which heightens osteoclast formation and bone resorption. This gene has three pseudogenes located on chromosomes 4, 9 and 10, respectively. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
anxa4
|
annexin A4|Annexin IV (ANX4) belongs to the annexin family of calcium-dependent phospholipid binding proteins. Although their functions are still not clearly defined, several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. ANX4 has 45 to 59% identity with other members of its family and shares a similar size and exon-intron organization. Isolated from human placenta, ANX4 encodes a protein that has possible interactions with ATP, and has in vitro anticoagulant activity and also inhibits phospholipase A2 activity. ANX4 is almost exclusively expressed in epithelial cells. [provided by RefSeq, Jul 2008]
|
anxa5
|
annexin A5|The protein encoded by this gene belongs to the annexin family of calcium-dependent phospholipid binding proteins some of which have been implicated in membrane-related events along exocytotic and endocytotic pathways. Annexin 5 is a phospholipase A2 and protein kinase C inhibitory protein with calcium channel activity and a potential role in cellular signal transduction, inflammation, growth and differentiation. Annexin 5 has also been described as placental anticoagulant protein I, vascular anticoagulant-alpha, endonexin II, lipocortin V, placental protein 4 and anchorin CII. The gene spans 29 kb containing 13 exons, and encodes a single transcript of approximately 1.6 kb and a protein product with a molecular weight of about 35 kDa. [provided by RefSeq, Jul 2008]
|
anxa6
|
annexin A6|Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010]
|
anxa6depleted
|
|
anxa7
|
annexin A7|Annexin VII is a member of the annexin family of calcium-dependent phospholipid binding proteins.The Annexin VII gene contains 14 exons and spans approximately 34 kb of DNA. An alternatively spliced cassette exon results in two mRNA transcripts of 2.0 and 2.4 kb which are predicted to generate two protein isoforms differing in their N-terminal domain. The alternative splicing event is tissue specific and the mRNA containing the cassette exon is prevalent in brain, heart and skeletal muscle. The transcripts also differ in their 3'-non coding regions by the use of two alternative poly(A) signals. Annexin VII encodes a protein with a molecular weight of approximately 51 kDa with a unique, highly hydrophobic N-terminal domain of 167 amino acids and a conserved C-terminal region of 299 amino acids. The latter domain is composed of alternating hydrophobic and hydrophilic segments. Structural analysis of the protein suggests that Annexin VII is a membrane binding protein with diverse properties, including voltage-sensitive calcium channel activity, ion selectivity and membrane fusion. [provided by RefSeq, Jul 2008]
|
anxiety
|
Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus.
|
anxietydepressive
|
|
anxietylike
|
|
anxietyrelated
|
|
anxiogenic
|
|
anxiolyticlike
|
|
anxious
|
|
anxs
|
|
any
|
|
anymore
|
|
ao7
|
|
aoa1
|
|
aoah
|
acyloxyacyl hydrolase (neutrophil)|This locus encodes both the light and heavy subunits of acyloxyacyl hydrolase. The encoded enzyme catalyzes the hydrolysis of acyloxylacyl-linked fatty acyl chains from bacterial lipopolysaccharides, effectively detoxifying these molecules. The encoded protein may play a role in modulating host inflammatory response to gram-negative bacteria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Apr 2010]
|
aop1
|
|
aorta
|
The great arterial trunk that carries blood from the heart to be distributed by branch arteries through the body.
|
aortae
|
|
aortagonadmesonephros
|
|
aortal
|
|
aortas
|
|
aortic
|
|
aortoiliac
|
|
aortopathy
|
|
aos
|
|
aos1
|
|
aosd
|
|
aot5cyp
|
|
aox
|
|
aox1
|
aldehyde oxidase 1|Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]
|
ap1
|
|
ap15
|
|
ap1730
|
|
ap180
|
|
ap1a
|
|
ap1activation
|
|
ap1are
|
|
ap1b
|
|
ap1bdeficient
|
|
ap1binding
|
|
ap1cjun
|
|
ap1crelike
|
|
ap1cyclin
|
|
ap1dependent
|
|
ap1gamma
|
|
ap1like
|
|
ap1mediated
|
|
ap1nfkappab
|
|
ap1pma
|
|
ap1regulated
|
|
ap1responsive
|
|
ap1s3
|
adaptor-related protein complex 1, sigma 3 subunit|This gene encodes a member of the adaptor-related protein complex 1, sigma subunit genes. The encoded protein is a component of adaptor protein complex 1 (AP-1), one of the AP complexes involved in claathrin-mediated vesicular transport from the Golgi or endosomes. Disruption of the pathway for display of HIV-1 antigens, which prevents recognition of the virus by cytotoxic T cells, has been shown to involve the AP-1 complex (PMID: 15569716). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
|
ap1tgfbeta1
|
|
ap2
|
|
ap2a
|
|
ap2alpha
|
|
ap2alpharb
|
|
ap2beta
|
|
ap2clathrin
|
|
ap2epsilon
|
|
ap2g
|
|
ap2gamma
|
|
ap2like
|
|
ap2mediated
|
|
ap2mu
|
|
ap2picalm
|
|
ap2positive
|
|
ap2sp1
|
|
ap3
|
|
ap3a
|
|
ap3abinding
|
|
ap3b1
|
adaptor-related protein complex 3, beta 1 subunit|This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
|
ap3s1
|
adaptor-related protein complex 3, sigma 1 subunit|
|
ap4
|
|
ap4a
|
|
ap4b1
|
adaptor-related protein complex 4, beta 1 subunit|This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
|
ap4deficiency
|
|
ap5
|
|
ap50
|
|
ap736
|
|
apa
|
|
apa1
|
|
apaf1
|
apoptotic peptidase activating factor 1|This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
apaf1caspase9
|
|
apaf1caspasedependent
|
|
apaf1cytochrome
|
|
apaf1interacting
|
|
apai
|
|
apak
|
|
apap
|
|
apapinduced
|
|
apart
|
|
aparticle
|
|
apas
|
|
apathy
|
Lack of emotion or emotional expression; a disorder of motivation that persists over time.
|
apatite
|
|
apba2
|
amyloid beta (A4) precursor protein-binding, family A, member 2|The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
apbdu
|
|
apc
|
A ubiquitin ligase complex that degrades mitotic cyclins and anaphase inhibitory protein, thereby triggering sister chromatid separation and exit from mitosis. Substrate recognition by APC occurs through degradation signals, the most common of which is termed the Dbox degradation motif, originally discovered in cyclin B.
|
apc1
|
|
apc10
|
|
apc11
|
|
apc1a
|
|
apc2
|
adenomatosis polyposis coli 2|
|
apc2cell
|
|
apc3
|
|
apc3cdc27
|
|
apc4
|
|
apc5
|
|
apc6cdc16
|
|
apc7
|
|
apc8
|
|
apc8cdc23
|
|
apcactivated
|
|
apcaxin
|
|
apcbetacatenin
|
|
apcbetacatenincontaining
|
|
apcc
|
|
apcccdc20
|
|
apcccdc20mediated
|
|
apcccdh1
|
|
apcccdh1dependent
|
|
apccdc20
|
|
apccdh1
|
|
apccdh1induced
|
|
apccdh1mediated
|
|
apccfzr
|
|
apccfzy
|
|
apccindependent
|
|
apccmediated
|
|
apccofactor
|
|
apcdependent
|
|
apcdepleted
|
|
apcgsk3beta
|
|
apcindependent
|
|
apcinteracting
|
|
apcinteractive
|
|
apcl
|
|
apcmediated
|
|
apcmin
|
|
apcmutyh
|
|
apcpci
|
|
apcphospholipid
|
|
apcprotein
|
|
apcr
|
|
apcresistant
|
|
apcs
|
amyloid P component, serum|The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family of proteins, which has a characteristic pentameric organization. These family members have considerable sequence homology which is thought to be the result of gene duplication. The binding of the encoded protein to proteins in the pathological amyloid cross-beta fold suggests its possible role as a chaperone. This protein is also thought to control the degradation of chromatin. It has been demonstrated that this protein binds to apoptotic cells at an early stage, which raises the possibility that it is involved in dealing with apoptotic cells in vivo. [provided by RefSeq, Sep 2008]
|
apct
|
|
apctruncated
|
|
apd
|
|
apdna
|
|
ape
|
|
ape1
|
|
ape1148
|
|
ape1asp148glu
|
|
ape1induced
|
|
ape1npm1
|
|
ape1ref1
|
|
ape1ref1stat3
|
|
ape1s
|
|
ape1small
|
|
ape2
|
|
apee3
|
|
apeh
|
acylaminoacyl-peptide hydrolase|This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma. [provided by RefSeq, Jul 2008]
|
apelin
|
|
apelin13
|
|
apelin13induced
|
|
apelinagtrl1
|
|
apelinapj
|
|
apelinlike
|
|
apelins
|
|
apendonuclease
|
|
apepol
|
|
aperef1
|
|
apert
|
|
aperture
|
|
apes
|
|
apex
|
The anterior most point of a dinoflagellate epicone.
|
apex1
|
APEX nuclease (multifunctional DNA repair enzyme) 1|Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein. [provided by RefSeq, Jul 2008]
|
apf
|
|
apfmediated
|
|
apg
|
|
apg12papg5p
|
|
apg2
|
|
apg3paut1p
|
|
apgar
|
|
aph1
|
|
aph1a
|
APH1A gamma secretase subunit|This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the paralogous anterior pharynx defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin enhancer-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimer's disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants. [provided by RefSeq, Aug 2011]
|
aph1al
|
|
aph1as
|
|
aph1b
|
APH1B gamma secretase subunit|This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins such as notch receptors and beta-amyloid precursor protein. [provided by RefSeq, Sep 2011]
|
aphanizomenon
|
|
aphasia
|
A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language.
|
apheresis
|
|
aphidicolin
|
A tetracyclic diterpenoid that has an tetradecahydro-8,11a-methanocyclohepta[a]naphthalene skeleton with two hydroxymethyl substituents at positions 4 and 9, two methyl substituents at positions 4 and 11b and two hydroxy substituents at positions 3 and 9. An antibiotic with antiviral and antimitotical properties. Aphidicolin is a reversible inhibitor of eukaryotic nuclear DNA replication.
|
aphinduced
|
|
aphthous
|
|
aphtous
|
|
api
|
|
api1
|
|
api2
|
|
api2malt1
|
|
api2malt1dependent
|
|
api5
|
apoptosis inhibitor 5|This gene encodes an apoptosis inhibitory protein whose expression prevents apoptosis after growth factor deprivation. This protein suppresses the transcription factor E2F1-induced apoptosis and also interacts with, and negatively regulates Acinus, a nuclear factor involved in apoptotic DNA fragmentation. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
|
apical
|
Apical is a geometric modifier describing the tip of a pyramidal or rounded structure. For example, lung apical.
|
apicalbasolateral
|
|
apically
|
|
apice
|
|
apicidin
|
|
apicidinmediated
|
|
apicobasal
|
|
apigenin
|
A trihydroxyflavone that is flavone substituted by hydroxy groups at positions 4', 5 and 7.
|
apim
|
|
apip
|
APAF1 interacting protein|APIP is an APAF1 (MIM 602233)-interacting protein that acts as a negative regulator of ischemic/hypoxic injury (Cho et al., 2004 [PubMed 15262985]).[supplied by OMIM, Dec 2008]
|
apj
|
|
apkc
|
|
apkciota
|
|
apkciotalambda
|
|
apkciotalambdadependent
|
|
apkclambdaiota
|
|
apkclambdaiotail6
|
|
apkcmediated
|
|
apkcp62traf6
|
|
apkczeta
|
|
apl
|
An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate. It is characterized by the t(15;17)(q22;q12) translocation. There are two variants: the typical and micro granular (hypo granular) variant. This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis. (WHO, 2001) -- 2003|An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate. It is characterized by the t(15;17)(q22;q12) translocation. There are two variants: the typical and microgranular variant. This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis. (WHO, 2001)
|
apla
|
|
aplasia
|
|
aplastic
|
|
aplderived
|
|
aplf
|
aprataxin and PNKP like factor|C2ORF13 is a component of the cellular response to chromosomal DNA single- and double-strand breaks (Iles et al., 2007 [PubMed 17353262]).[supplied by OMIM, Mar 2008]
|
apln
|
apelin|This gene encodes a peptide that functions as an endogenous ligand for the G protein coupled receptor APJ. The encoded protein is synthesized as a prepropeptide that is processed into biologically active C-terminal fragments. The peptide fragments activate different tissue specific signaling pathways that regulate diverse biological functions including fluid homeostasis, cardiovascular function and insulin secretion. This protein also functions as a coreceptor for the human immunodeficiency virus 1.[provided by RefSeq, Feb 2010]
|
aplnr
|
apelin receptor|This gene encodes a member of the G protein-coupled receptor gene family. The encoded protein is related to the angiotensin receptor, but is actually an apelin receptor that inhibits adenylate cyclase activity and plays a counter-regulatory role against the pressure action of angiotensin II by exerting hypertensive effect. It functions in the cardiovascular and central nervous systems, in glucose metabolism, in embryonic and tumor angiogenesis and as a human immunodeficiency virus (HIV-1) coreceptor. Two transcript variants resulting from alternative splicing have been identified. [provided by RefSeq, Jul 2009]
|
aplp1
|
amyloid beta (A4) precursor-like protein 1|This gene encodes a member of the highly conserved amyloid precursor protein gene family. The encoded protein is a membrane-associated glycoprotein that is cleaved by secretases in a manner similar to amyloid beta A4 precursor protein cleavage. This cleavage liberates an intracellular cytoplasmic fragment that may act as a transcriptional activator. The encoded protein may also play a role in synaptic maturation during cortical development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
|
aplp2
|
amyloid beta (A4) precursor-like protein 2|This gene encodes amyloid precursor- like protein 2 (APLP2), which is a member of the APP (amyloid precursor protein) family including APP, APLP1 and APLP2. This protein is ubiquitously expressed. It contains heparin-, copper- and zinc- binding domains at the N-terminus, BPTI/Kunitz inhibitor and E2 domains in the middle region, and transmembrane and intracellular domains at the C-terminus. This protein interacts with major histocompatibility complex (MHC) class I molecules. The synergy of this protein and the APP is required to mediate neuromuscular transmission, spatial learning and synaptic plasticity. This protein has been implicated in the pathogenesis of Alzheimer's disease. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
|
apls
|
|
aplysia
|
|
apm
|
|
apm1
|
|
apmcf1
|
|
apn
|
|
apncd13
|
|
apndependent
|
|
apnea
|
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
|
apneahypopnea
|
|
apnmediated
|
|
apnoea
|
|
apo
|
|
apo010mediated
|
|
apo1
|
|
apo10ol
|
|
apo11q
|
|
apo1cd95jnk
|
|
apo1on
|
|
apo2
|
|
apo2l
|
|
apo2ltrail
|
|
apo2ltrailbased
|
|
apo2ltrailinduced
|
|
apo2ltumor
|
|
apo3ah
|
|
apo4
|
|
apoa
|
|
apoa1
|
apolipoprotein A-I|This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The protein promotes cholesterol efflux from tissues to the liver for excretion, and it is a cofactor for lecithin cholesterolacyltransferase (LCAT) which is responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. [provided by RefSeq, Jul 2008]
|
apoa1and
|
|
apoa1apoa5
|
|
apoa1c3a4a5
|
|
apoa1c3a5
|
|
apoa1dependent
|
|
apoa1mspi
|
|
apoa2
|
apolipoprotein A-II|This gene encodes apolipoprotein (apo-) A-II, which is the second most abundant protein of the high density lipoprotein particles. The protein is found in plasma as a monomer, homodimer, or heterodimer with apolipoprotein D. Defects in this gene may result in apolipoprotein A-II deficiency or hypercholesterolemia. [provided by RefSeq, Jul 2008]
|
apoa4
|
apolipoprotein A-IV|Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon. The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted its primary site of synthesis, the intestine, in association with chylomicron particles. Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol acyltransferase in vitro. [provided by RefSeq, Jul 2008]
|
apoa41
|
|
apoa42
|
|
apoa5
|
apolipoprotein A-V|The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]
|
apoa51131
|
|
apoa51131c
|
|
apoa51131tc
|
|
apoa5znf259
|
|
apoai
|
|
apoaiabca1
|
|
apoaiapoe
|
|
apoaiciiiaiv
|
|
apoaidependent
|
|
apoaii
|
|
apoaiicontaining
|
|
apoaimediated
|
|
apoaipoor
|
|
apoaiv
|
|
apoal
|
|
apoapcc
|
|
apoav
|
|
apob
|
apolipoprotein B|This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Jul 2008]
|
apob100
|
|
apob1000
|
|
apob100apoai
|
|
apob100containing
|
|
apob48
|
|
apob48r
|
|
apoba1
|
|
apobac3a
|
|
apobac3c
|
|
apobai
|
|
apobapoa
|
|
apobapoa1
|
|
apobapoai
|
|
apobcontaining
|
|
apobea3d
|
|
apobea3f
|
|
apobea3g
|
|
apobea3hhapii
|
|
apobec
|
Protein complex that mediates editing of the mRNA encoding apolipoprotein B; catalyzes the deamination of C to U (residue 6666 in the human mRNA). Contains a catalytic subunit, APOBEC-1, and other proteins (e.g. human ASP; rat ASP and KSRP).
|
apobec1
|
apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1|This gene encodes a member of the cytidine deaminase enzyme family. The encoded protein forms a multiple-protein editing holoenzyme with APOBEC1 complementation factor (ACF) and APOBEC1 stimulating protein (ASP). This holoenzyme is involved in the editing of C-to-U nucleotide bases in apolipoprotein B and neurofibromatosis-1 mRNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]
|
apobec1enhanced
|
|
apobec1mediated
|
|
apobec2
|
apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2|
|
apobec3
|
|
apobec3a
|
apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A|This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene lacks the zinc binding activity of other family members. The protein plays a role in immunity, by restricting transmission of foreign DNA such as viruses. One mechanism of foreign DNA restriction is deamination of foreign double-stranded DNA cytidines to uridines, which leads to DNA degradation. However, other mechanisms are also thought to be involved, as anti-viral effect is not dependent on deaminase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
|
apobec3aapobec3b
|
|
apobec3b
|
apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B|This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. A hybrid gene results from the deletion of approximately 29.5 kb of sequence between this gene, APOBEC3B, and the adjacent gene APOBEC3A. The breakpoints of the deletion are within the two genes, so the deletion allele is predicted to have the promoter and coding region of APOBEC3A, but the 3' UTR of APOBEC3B. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
|
apobec3c
|
apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C|This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. [provided by RefSeq, Jul 2008]
|
apobec3d
|
apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D|This gene is a member of the cytidine deaminase gene family. It is one of a group of related genes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1 and inhibit retroviruses, such as HIV, by deaminating cytosine residues in nascent retroviral cDNA. [provided by RefSeq, Jul 2008]
|
apobec3de
|
|
apobec3f
|
apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F|This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
apobec3fa3f
|
|
apobec3fgspecific
|
|
apobec3g
|
apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G|This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. The protein encoded by this gene has been found to be a specific inhibitor of human immunodeficiency virus-1 (HIV-1) infectivity. [provided by RefSeq, Jul 2008]
|
apobec3g3f
|
|
apobec3gedited
|
|
apobec3gf
|
|
apobec3ginduced
|
|
apobec3h
|
|
apobec3mediated
|
|
apobecdependent
|
|
apobldl
|
|
apoblipoprotein
|
|
apoblipoproteins
|
|
apoblppla2
|
|
apoc1
|
apolipoprotein C-I|The protein encoded by this gene is a member of the apolipoprotein C1 family. This gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. A pseudogene of this gene is located 4 kb downstream in the same orientation, on the same chromosome. This gene is mapped to chromosome 19, where it resides within a apolipoprotein gene cluster. Alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
|
apoc2
|
apolipoprotein C-II|This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring upstream apolipoprotein C-IV (APOC4) gene. [provided by RefSeq, Mar 2011]
|
apoc3
|
apolipoprotein C-III|Apolipoprotein C-III is a very low density lipoprotein (VLDL) protein. APOC3 inhibits lipoprotein lipase and hepatic lipase; it is thought to delay catabolism of triglyceride-rich particles. The APOA1, APOC3 and APOA4 genes are closely linked in both rat and human genomes. The A-I and A-IV genes are transcribed from the same strand, while the A-1 and C-III genes are convergently transcribed. An increase in apoC-III levels induces the development of hypertriglyceridemia. [provided by RefSeq, Jul 2008]
|
apoc3482ct
|
|
apoc4apoc2
|
|
apocam
|
|
apoceruloplasmin
|
|
apoci
|
|
apocii
|
|
apociii
|
|
apociiicontaining
|
|
apocimediated
|
|
apociv
|
|
apocrine
|
|
apocynin
|
|
apocytochrome
|
|
apod
|
apolipoprotein D|This gene encodes a component of high density lipoprotein that has no marked similarity to other apolipoprotein sequences. It has a high degree of homology to plasma retinol-binding protein and other members of the alpha 2 microglobulin protein superfamily of carrier proteins, also known as lipocalins. This glycoprotein is closely associated with the enzyme lecithin:cholesterol acyltransferase - an enzyme involved in lipoprotein metabolism. [provided by RefSeq, Aug 2008]
|
apoe
|
apolipoprotein E|The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
|
apoe2
|
|
apoe3
|
|
apoe3e2
|
|
apoe3leiden
|
|
apoe4
|
|
apoe44
|
|
apoe4dependent
|
|
apoe4induced
|
|
apoeabeta
|
|
apoeace
|
|
apoeamyloid
|
|
apoeapoe4
|
|
apoec1c4c2
|
|
apoecarrying
|
|
apoecontaining
|
|
apoedeficient
|
|
apoedependent
|
|
apoee4
|
|
apoeenriched
|
|
apoeepsilon
|
|
apoeepsilon4
|
|
apoeepsilon4chrna4
|
|
apoeepsilon4negative
|
|
apoeinduced
|
|
apoeldlr
|
|
apoemediated
|
|
apoenzyme
|
|
apoepsilon4
|
|
apoer2
|
|
apoesdc4
|
|
apoetomm40
|
|
apoetransfected
|
|
apoevarepsilon4
|
|
apoevarepsilon4associated
|
|
apof
|
apolipoprotein F|The product of this gene is one of the minor apolipoproteins found in plasma. This protein forms complexes with lipoproteins and may be involved in transport and/or esterification of cholesterol. [provided by RefSeq, Jul 2008]
|
apoforms
|
|
apohtf
|
|
apoj
|
|
apol1
|
apolipoprotein L, 1|This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
|
apol1myh9
|
|
apol2
|
apolipoprotein L, 2|This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
|
apol6
|
apolipoprotein L, 6|This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. [provided by RefSeq, Jul 2008]
|
apolar
|
|
apolf
|
|
apoli
|
|
apolipoprotein
|
|
apolipoproteina
|
|
apolipoproteina4
|
|
apolipoproteinc3
|
|
apolipoproteine
|
|
apolipoproteinlike
|
|
apolipoproteins
|
|
apoliprotein
|
|
apollo
|
|
apollon
|
|
apom
|
apolipoprotein M|The protein encoded by this gene is an apolipoprotein and member of the lipocalin protein family. It is found associated with high density lipoproteins and to a lesser extent with low density lipoproteins and triglyceride-rich lipoproteins. The encoded protein is secreted through the plasma membrane but remains membrane-bound, where it is involved in lipid transport. Alternate splicing results in both coding and non-coding variants of this gene. [provided by RefSeq, Jan 2012]
|
apomtg
|
|
apomucins
|
|
apomyoglobin
|
|
aponeuroses
|
|
apool
|
apolipoprotein O-like|This gene encodes a protein which contains an apolipoprotein O superfamily domain. This domain is found on proteins in circulating lipoprotein complexes. [provided by RefSeq, Sep 2011]
|
apoplexy
|
A sudden, nonconvulsive loss of neurologic function due to an ischemic or hemorrhagic intracranial vascular event. In general, cerebrovascular accidents are classified by anatomic location in the brain, vascular distribution, etiology, age of the affected individual, and hemorrhagic vs. nonhemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810)|A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to BRAIN ISCHEMIA or INTRACRANIAL HEMORRHAGES. Stroke is classified by the type of tissue NECROSIS, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810)|A sudden, nonconvulsive loss of neurologic function due to an ischemic or hemorrhagic intracranial vascular event. In general, cerebrovascular accidents are classified by anatomic location in the brain, vascular distribution, etiology, age of the affected individual, and hemorrhagic vs. nonhemorrhagic nature (MeSH).|A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event.|Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis.
|
apopotosis
|
|
apoprotein
|
|
apoproteins
|
|
apoptin
|
|
apoptininduced
|
|
apopto
|
|
apoptogenesis
|
|
apoptogenic
|
|
apoptopsis
|
|
apoptosic
|
|
apoptosing
|
|
apoptosis
|
|
apoptosisactivating
|
|
apoptosisanoikis
|
|
apoptosisassociated
|
|
apoptosisautophagy
|
|
apoptosisblocking
|
|
apoptosisboth
|
|
apoptosisdeficient
|
|
apoptosisindependent
|
|
apoptosisinduced
|
|
apoptosisinducer
|
|
apoptosisinducible
|
|
apoptosisinducing
|
|
apoptosisinduction
|
|
apoptosisinductor
|
|
apoptosisinhibiting
|
|
apoptosisinhibitor
|
|
apoptosisinitiated
|
|
apoptosislinked
|
|
apoptosismediated
|
|
apoptosismediating
|
|
apoptosismesc
|
|
apoptosispermissive
|
|
apoptosisproliferation
|
|
apoptosispromoting
|
|
apoptosispuma
|
|
apoptosisregulating
|
|
apoptosisregulatory
|
|
apoptosisrelated
|
|
apoptosisresistance
|
|
apoptosisresistant
|
|
apoptosisspecific
|
|
apoptosisstimulating
|
|
apoptosissuppressing
|
|
apoptosisthe
|
|
apoptosomal
|
|
apoptosome
|
A multisubunit protein complex involved in the signaling phase of the apoptotic process. In mammals it is typically composed of seven Apaf-1 subunits bound to cytochrome c and caspase-9. A similar complex to promote apoptosis is formed from homologous gene products in other eukaryotic organisms.
|
apoptosomemediated
|
|
apoptotic
|
|
apoptotically
|
|
apoptoticinducing
|
|
apoptoticinhibitory
|
|
apoptoticsignalling
|
|
apoptotis
|
|
apoptotoic
|
|
apos100b
|
|
aposgcbeta1
|
|
apositive
|
|
aposuperoxide
|
|
apotential
|
|
apotentiated
|
|
apotf
|
|
apotosis
|
|
apotransferrin
|
|
app
|
amyloid beta (A4) precursor protein|This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. In addition, two of the peptides are antimicrobial peptides, having been shown to have bacteriocidal and antifungal activities. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2014]
|
app23
|
|
app695
|
|
app751
|
|
appalpha
|
|
apparatus
|
|
apparatuser
|
|
apparatusindependent
|
|
apparatuslocalized
|
|
apparent
|
|
apparently
|
|
appbace1
|
|
appbp1
|
|
appbp1uba3
|
|
appbp1uba3nedd8
|
|
appbp1uba3s
|
|
appcleaving
|
|
appctf
|
|
appctfs
|
|
appcts
|
|
appdependent
|
|
appealing
|
|
appear
|
|
appearance
|
|
appeared
|
|
appearing
|
|
appears
|
|
appeasing
|
|
appeear
|
|
appendage
|
|
appendages
|
|
appendectomy
|
|
appendiceal
|
|
appendicitis
|
A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever.
|
appendicular
|
|
appendix
|
A narrow blind tube usually about three or four inches (7.6 to 10.2 centimeters) long that extends from the cecum in the lower right-hand part of the abdomen, has much lymphoid wall tissue, normally communicates with the cavity of the cecum, and represents an atrophied terminal part of the cecum.|Organ with organ cavity which is continuous proximally with the cecum and distally terminates in the tip of the appendix. Examples: There is only one appendix.
|
apperar
|
|
appetite
|
|
appetiteregulating
|
|
appetitive
|
|
appfe65
|
|
appinteracting
|
|
appl
|
|
appl1
|
adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1|The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008]
|
appl12
|
|
appl1dependent
|
|
appl1labelled
|
|
appl1lkb1dependent
|
|
appl1related
|
|
appl2
|
adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2|The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011]
|
apple
|
|
appliances
|
|
applicability
|
|
applicable
|
|
application
|
|
applications
|
|
applied
|
|
applies
|
|
applike
|
|
apply
|
|
applying
|
|
appmediated
|
|
appoint
|
|
appolon
|
|
apposed
|
|
apposition
|
|
apppositive
|
|
apppresenilin
|
|
apppresenilin1
|
|
appprotease
|
|
appps1
|
|
appps1htau
|
|
appraisal
|
|
appreciable
|
|
appreciably
|
|
appreciated
|
|
appreciation
|
|
appregulated
|
|
approach
|
|
approachavoidance
|
|
approached
|
|
approaches
|
|
approachesreview
|
|
approaching
|
|
appropriate
|
|
appropriateforgestational
|
|
appropriateforgestationalage
|
|
appropriately
|
|
appropriateness
|
|
approval
|
|
approved
|
|
approx
|
|
approximate
|
|
approximately
|
|
approximation
|
|
apps
|
|
appsalpha
|
|
appsod1
|
|
appsw
|
|
appswe
|
|
appswepresenilin1deltae9deleted
|
|
appsweps1de9
|
|
appsweps1m146v
|
|
apptransgenic
|
|
appwt
|
|
appxps1
|
|
apr
|
|
apr1
|
|
apr3
|
|
apr834
|
|
aprataxin
|
|
apraxia
|
An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.
|
apri
|
|
april
|
|
aprilmediated
|
|
apriltaci
|
|
apriltacispecific
|
|
aprin
|
|
apromoted
|
|
apromoter
|
|
aprotinin
|
|
aps
|
|
aps1
|
|
apt
|
|
apt2
|
|
apta
|
|
aptamer
|
|
aptamerfacilitated
|
|
aptamers
|
|
aptitude
|
|
aptr
|
|
aptx
|
aprataxin|This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]
|
apurinic
|
|
apurinicapyrimidinic
|
|
apyrase
|
|
apyrene
|
|
aqp
|
|
aqp1
|
aquaporin 1 (Colton blood group)|Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This gene encodes an aquaporin which functions as a molecular water channel protein. It is a homotetramer with 6 bilayer spanning domains and N-glycosylation sites. The protein physically resembles channel proteins and is abundant in erythrocytes and renal tubes. The gene encoding this aquaporin is a possible candidate for disorders involving imbalance in ocular fluid movement. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
|
aqp10
|
|
aqp11
|
aquaporin 11|
|
aqp12
|
|
aqp2
|
aquaporin 2 (collecting duct)|This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]
|
aqp3
|
aquaporin 3 (Gill blood group)|This gene encodes the water channel protein aquaporin 3. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein, also known as aquaporin 0. Aquaporin 3 is localized at the basal lateral membranes of collecting duct cells in the kidney. In addition to its water channel function, aquaporin 3 has been found to facilitate the transport of nonionic small solutes such as urea and glycerol, but to a smaller degree. It has been suggested that water channels can be functionally heterogeneous and possess water and solute permeation mechanisms. [provided by RefSeq, Aug 2011]
|
aqp3notch1
|
|
aqp4
|
aquaporin 4|This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. The encoded protein is the predominant aquaporin found in brain. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
aqp5
|
aquaporin 5|Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, AQP2, AQP5, and AQP6 are closely related and all map to 12q13. [provided by RefSeq, Jul 2008]
|
aqp5p38
|
|
aqp6
|
aquaporin 6, kidney specific|The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome 12q13. [provided by RefSeq, Jul 2008]
|
aqp7
|
|
aqp8
|
|
aqp9
|
aquaporin 9|The aquaporins are a family of water-selective membrane channels. The protein encoded by this gene allows passage of a wide variety of noncharged solutes. It stimulates urea transport and osmotic water permeability; there are contradicting reports about its role in providing glycerol permeability. The encoded protein may also play a role in specialized leukocyte functions such as immunological response and bactericidal activity. [provided by RefSeq, Jul 2008]
|
aqp9induced
|
|
aqps
|
|
aqua
|
|
aquaporin
|
Transport systems of this type catalyze facilitated diffusion of water (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism.
|
aquaporin1
|
|
aquaporin2
|
|
aquaporin4
|
|
aquaporin5
|
|
aquaporins
|
|
aqueduct
|
|
aqueducts
|
|
aqueous
|
|
aquired
|
|
ar114
|
|
ar42j
|
|
ar45
|
|
ara
|
|
ara24ran
|
|
ara267alpha
|
|
ara54
|
|
ara54enhanced
|
|
ara70
|
|
arab
|
|
arabia
|
|
arabian
|
|
arabic
|
|
arabidopsis
|
|
arabinoside
|
|
arabinosideinduced
|
|
arabmuslim
|
|
arabs
|
|
arac
|
|
arachidonate
|
|
arachidonic
|
|
arachidonoylglycerol
|
|
arachnodactyly
|
Abnormally long and slender fingers (spider fingers).
|
arachnoid
|
|
aracresistant
|
|
aractp
|
|
arad52
|
|
araf
|
A-Raf proto-oncogene, serine/threonine kinase|This proto-oncogene belongs to the RAF subfamily of the Ser/Thr protein kinase family, and maybe involved in cell growth and development. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2012]
|
aralipoarabinomannan
|
|
araomatic
|
|
arap1
|
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1|The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
|
arap1arf15
|
|
arap2
|
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2|The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. The protein is a phosphatidylinositol (3,4,5)-trisphosphate-dependent Arf6 GAP that binds RhoA-GTP, but it lacks the predicted catalytic arginine in the RHO-GAP domain and does not have RHO-GAP activity. The protein associates with focal adhesions and functions downstream of RhoA to regulate focal adhesion dynamics. [provided by RefSeq, Sep 2008]
|
arap3
|
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3|This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2008]
|
arb
|
|
arbitrary
|
|
arbitrate
|
|
arborization
|
|
arbors
|
|
arbound
|
|
arc
|
activity-regulated cytoskeleton-associated protein|
|
arc105
|
|
arc1mosc1
|
|
arc2mosc2
|
|
arca
|
|
arcagn
|
|
arcap
|
|
arch
|
|
archaea
|
|
archaeal
|
|
archaemetzincin1
|
|
archazolid
|
|
archease
|
|
arches
|
|
archetypal
|
|
archetypical
|
|
architectural
|
|
architecture
|
|
architectures
|
|
archival
|
|
archive
|
|
archived
|
|
archvillin
|
|
arcis
|
|
arcmt
|
|
arcn1
|
archain 1|This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia virus integration 1 genes, where multiple disease-associated chromosome translocations occur. It is an intracellular protein. Archain sequences are well conserved among eukaryotes and this protein may play a fundamental role in eukaryotic cell biology. It has similarities to heat shock proteins and clathrin-associated proteins, and may be involved in vesicle structure or trafficking. [provided by RefSeq, Jul 2008]
|
arcoactivator
|
|
arcrd
|
|
arcs
|
Catalysis of the reaction: L-glutamine + 7-cyano-7-carbaguanine15 in tRNA + H2O = L-glutamate + archaeine15 in tRNA.
|
arctic
|
|
arcuate
|
|
ard
|
|
ard1
|
|
ard1b
|
|
ard1tsc2mtor
|
|
ardeltactd
|
|
ardependent
|
|
ardriven
|
|
ards
|
|
are2
|
|
area
|
A 2-D extent quality inhering in a bearer by virtue of the bearer's two dimensional extent.|An area is a size quality which describes the two dimensional extent of a material entity.
|
areal
|
|
arealization
|
|
areas
|
|
areata
|
|
areaurich
|
|
areavta
|
|
arebinding
|
Interacting selectively and non-covalently with a region of RNA containing frequent adenine and uridine bases.
|
arebp
|
|
areca
|
|
arecaassociated
|
|
areceptor
|
|
arecoline
|
A tetrahydropyridine that is 1,2,5,6-tetrahydropyridine with a methyl group at position 1, and a methoxycarbonyl group at position 3. An alkaloid found in the areca nut, it acts as an agonist of muscarinic acetylcholine.
|
arecontaining
|
|
aredependent
|
|
aredirected
|
|
aredriven
|
|
areds
|
|
areepre
|
|
areepredependent
|
|
areflexia
|
Absence of neurologic reflexes such as the knee-jerk reaction.
|
areg
|
amphiregulin|The protein encoded by this gene is a member of the epidermal growth factor family. It is an autocrine growth factor as well as a mitogen for astrocytes, Schwann cells and fibroblasts. It is related to epidermal growth factor (EGF) and transforming growth factor alpha (TGF-alpha). The protein interacts with the EGF/TGF-alpha receptor to promote the growth of normal epithelial cells, and it inhibits the growth of certain aggressive carcinoma cell lines. It also functions in mammary gland, oocyte and bone tissue development. This gene is associated with a psoriasis-like skin phenotype, and is also associated with other pathological disorders, including various types of cancers and inflammatory conditions. [provided by RefSeq, Apr 2014]
|
aregegfr
|
|
aregfr
|
|
aregulated
|
|
areindependent
|
|
areis
|
|
arelated
|
|
aremediated
|
|
aremrna
|
|
arena
|
|
arenavirus
|
|
arenaviruses
|
|
arenhanced
|
|
areolar
|
|
arep
|
|
arer
|
|
arerich
|
|
ares
|
|
aresolution
|
|
arexpressing
|
|
arf
|
|
arf1
|
ADP-ribosylation factor 1|ADP-ribosylation factor 1 (ARF1) is a member of the human ARF gene family. The family members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking as activators of phospholipase D. The gene products, including 6 ARF proteins and 11 ARF-like proteins, constitute a family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2 and ARF3), class II (ARF4 and ARF5) and class III (ARF6), and members of each class share a common gene organization. The ARF1 protein is localized to the Golgi apparatus and has a central role in intra-Golgi transport. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
|
arf1arf3
|
|
arf1arf4
|
|
arf1dependent
|
|
arf1gtp
|
|
arf1phospholipase
|
|
arf3
|
ADP-ribosylation factor 3|ADP-ribosylation factor 3 (ARF3) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6) and members of each class share a common gene organization. The ARF3 gene contains five exons and four introns. [provided by RefSeq, Jul 2008]
|
arf4
|
ADP-ribosylation factor 4|This gene is a member of the human ARF gene family whose members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 5 ARF proteins and 11 ARF-like proteins and constitute one family of the RAS superfamily. The ARF proteins are categorized as class I, class II and class III; this gene is a class II member. The members of each class share a common gene organization. The ARF4 gene spans approximately 12kb and contains six exons and five introns. This gene is the most divergent member of the human ARFs. Conflicting map positions at 3p14 or 3p21 have been reported for this gene. [provided by RefSeq, Jul 2008]
|
arf4l
|
|
arf4mediated
|
|
arf5
|
ADP-ribosylation factor 5|This gene is a member of the human ADP-ribosylation factor (ARF) gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6). The members of each class share a common gene organization. [provided by RefSeq, Dec 2010]
|
arf5arf6
|
|
arf6
|
ADP-ribosylation factor 6|This gene encodes a member of the human ARF gene family, which is part of the RAS superfamily. The ARF genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The product of this gene is localized to the plasma membrane, and regulates vesicular trafficking, remodelling of membrane lipids, and signaling pathways that lead to actin remodeling. A pseudogene of this gene is located on chromosome 7. [provided by RefSeq, Jul 2008]
|
arf6acap1
|
|
arf6dependent
|
|
arf6gap
|
|
arf6gtp
|
|
arf6mediated
|
|
arf6pip5k
|
|
arfaptin
|
|
arfaptin1
|
|
arfaptin2
|
|
arfbinding
|
Interacting selectively and non-covalently with ARF, ADP-ribosylation factor, a small monomeric cytosolic GTPase that, when bound to GTP, binds to the membranes of cells.
|
arfbp1
|
|
arfdependent
|
|
arfgap
|
|
arfgap1
|
ADP-ribosylation factor GTPase activating protein 1|The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
arfgap2
|
ADP-ribosylation factor GTPase activating protein 2|
|
arfgap3
|
ADP-ribosylation factor GTPase activating protein 3|The protein encoded by this gene is a GTPase-activating protein (GAP) that associates with the Golgi apparatus and regulates the early secretory pathway of proteins. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1 (ARF1)-bound GTP, which is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is a prerequisite for the fusion of these vesicles with target compartments. The activity of this protein is sensitive to phospholipids. Multiple transcript variants encoding different isoforms have been found for this gene. This gene was originally known as ARFGAP1, but that is now the name of a related but different gene. [provided by RefSeq, Nov 2008]
|
arfgef1
|
ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)|ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011]
|
arfgef3
|
ARFGEF family member 3|
|
arfgtp
|
|
arfinduced
|
|
arflike
|
|
arflnaintegrin
|
|
arfmdm2p53
|
|
arfmediated
|
|
arfp53
|
|
arfpf
|
|
arfrp1
|
ADP-ribosylation factor related protein 1|The protein encoded by this gene is a membrane-associated GTP-ase which localizes to the plasma membrane and is related to the ADP-ribosylation factor (ARF) and ARF-like (ARL) proteins. This gene plays a role in membrane trafficking between the trans-Golgi network and endosomes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]
|
arfs
|
|
arftopo
|
|
arg
|
|
arg1
|
arginase 1|Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
|
arg100
|
|
arg114
|
|
arg135trp
|
|
arg138residues
|
|
arg142trp
|
|
arg144gln
|
|
arg15
|
|
arg155
|
|
arg156arg
|
|
arg158cys
|
|
arg163
|
|
arg1668
|
|
arg16gly
|
|
arg176trp
|
|
arg179
|
|
arg183
|
|
arg190
|
|
arg192glu
|
|
arg194arg
|
|
arg194trp
|
|
arg2
|
arginase 2|Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exists (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type II isoform encoded by this gene, is located in the mitochondria and expressed in extra-hepatic tissues, especially kidney. The physiologic role of this isoform is poorly understood; it is thought to play a role in nitric oxide and polyamine metabolism. Transcript variants of the type II gene resulting from the use of alternative polyadenylation sites have been described. [provided by RefSeq, Jul 2008]
|
arg20
|
|
arg213gly
|
|
arg214215
|
|
arg238
|
|
arg25
|
|
arg25pro
|
|
arg261
|
|
arg272ile350
|
|
arg280his
|
|
arg300
|
|
arg306
|
|
arg307
|
|
arg320
|
|
arg336
|
|
arg34
|
|
arg347
|
|
arg35
|
|
arg3765
|
|
arg381gln
|
|
arg389gly
|
|
arg399gln
|
|
arg399glu
|
|
arg415gln
|
|
arg441
|
|
arg443
|
|
arg463
|
|
arg466
|
|
arg47
|
|
arg47his
|
|
arg487tyrval
|
|
arg489alaarg490alalys493ala
|
|
arg492cys
|
|
arg498
|
|
arg500
|
|
arg506
|
|
arg506gln
|
|
arg57
|
|
arg61
|
|
arg63
|
|
arg64
|
|
arg643
|
|
arg64arg64
|
|
arg653gln
|
|
arg659
|
|
arg660
|
|
arg67
|
|
arg677trp
|
|
arg72
|
|
arg723gln
|
|
arg72pro
|
|
arg73
|
|
arg737
|
|
arg74
|
|
arg751gln
|
|
arg753gln
|
|
arg753glu
|
|
arg76
|
|
arg77
|
|
arg77cys
|
|
arg8
|
|
arg852lys859arg860
|
|
arg9
|
|
arg904gln
|
|
arg92his
|
|
arg96
|
|
arg972
|
|
arg98
|
|
argarg
|
|
argb20
|
|
argbp2
|
|
argbp2gamma
|
|
argentina
|
|
argentine
|
|
argentinean
|
|
argentinian
|
|
arggln
|
|
arggln353
|
|
argglnserser
|
|
arggly
|
|
argglyasp
|
|
arggn
|
|
arghis
|
|
argii
|
|
arginase
|
|
arginase1
|
|
arginase2
|
|
arginasei
|
|
arginaseii
|
|
arginine
|
|
arginine194tryptophan
|
|
arginine340
|
|
arginineglutamate
|
|
arginineglycinerich
|
|
argininelysinerich
|
|
argininemediated
|
|
argininemethylated
|
|
argininemethylation
|
|
argininerich
|
|
arginines
|
|
arginineserine
|
|
arginineserinerich
|
|
argininetocysteine
|
|
argininevasopressin
|
|
arginini
|
|
argininosuccinate
|
|
arginyltrna
|
|
argipressin
|
|
argleu
|
|
arglu1
|
arginine and glutamate rich 1|
|
argonaute
|
|
argonaute1
|
|
argonaute12
|
|
argonaute2
|
|
argonaute3
|
|
argonautes
|
|
argpro
|
|
argser
|
|
argtrp
|
|
arguably
|
|
argue
|
|
argues
|
|
arguing
|
|
argument
|
|
arguments
|
|
argyrophilic
|
|
arh
|
|
arhgap10
|
Rho GTPase activating protein 10|
|
arhgap12
|
Rho GTPase activating protein 12|This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may be involved in suppressing tumor formation by regulating cell invasion and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
|
arhgap13
|
|
arhgap14
|
|
arhgap21
|
Rho GTPase activating protein 21|ARHGAP21 functions preferentially as a GTPase-activating protein (GAP) for CDC42 (MIM 116952) and regulates the ARP2/3 complex (MIM 604221) and F-actin dynamics at the Golgi through control of CDC42 activity (Dubois et al., 2005 [PubMed 15793564]).[supplied by OMIM, Mar 2008]
|
arhgap22
|
Rho GTPase activating protein 22|This gene encodes a member of the GTPase activating protein family which activates a GTPase belonging to the RAS superfamily of small GTP-binding proteins. The encoded protein is insulin-responsive, is dependent on the kinase Akt and requires the Akt-dependent 14-3-3 binding protein which binds sequentially to two serine residues. The result of these interactions is regulation of cell motility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
|
arhgap26
|
Rho GTPase activating protein 26|Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
|
arhgap29
|
Rho GTPase activating protein 29|
|
arhgap30
|
Rho GTPase activating protein 30|
|
arhgap36
|
Rho GTPase activating protein 36|
|
arhgap4
|
Rho GTPase activating protein 4|This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the RAS superfamily. The protein encoded by the orthologous gene in rat is localized to the Golgi complex and can redistribute to microtubules. The rat protein stimulates the activity of some Rho GTPases in vitro. Genomic deletions of this gene and a neighboring gene have been found in patients with nephrogenic diabetes insipidus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
|
arhgap5
|
Rho GTPase activating protein 5|Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
arhgap6
|
Rho GTPase activating protein 6|This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane during several cellular processes. This protein is thought to have two independent functions, one as a GTPase-activating protein with specificity for RhoA, and another as a cytoskeletal protein that promotes actin remodeling. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
arhgdia
|
Rho GDP dissociation inhibitor (GDI) alpha|This gene encodes a protein that plays a key role in the regulation of signaling through Rho GTPases. The encoded protein inhibits the disassociation of Rho family members from GDP (guanine diphosphate), thereby maintaining these factors in an inactive state. Activity of this protein is important in a variety of cellular processes, and expression of this gene may be altered in tumors. Mutations in this gene have been found in individuals with nephrotic syndrome, type 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
|
arhgdibeta
|
|
arhgef1
|
Rho guanine nucleotide exchange factor (GEF) 1|Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]
|
arhgef12
|
Rho guanine nucleotide exchange factor (GEF) 12|Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
|
arhgef15
|
Rho guanine nucleotide exchange factor (GEF) 15|Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein-coupled receptors. This gene encodes a protein that functions as a specific guanine nucleotide exchange factor for RhoA. It also interacts with ephrin A4 in vascular smooth muscle cells. Two alternatively spliced transcripts variants that encode the same protein have been found for this gene. [provided by RefSeq, Aug 2010]
|
arhgef16
|
Rho guanine nucleotide exchange factor (GEF) 16|Although the specific function of this protein is not known yet, it is thought to be involved in protein-protein and protein-lipid interactions. [provided by RefSeq, Jul 2008]
|
arhgef3
|
Rho guanine nucleotide exchange factor (GEF) 3|Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
arhgef5src
|
|
arhgef6
|
Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6|Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific mental retardation. [provided by RefSeq, Jul 2008]
|
arhgef7
|
Rho guanine nucleotide exchange factor (GEF) 7|Rho GTPases play a fundamental role in numerous cellular processes triggered by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. This protein can induce membrane ruffling. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
|
arhi
|
|
arhr
|
|
arhsp
|
|
ari
|
|
aria
|
|
ariadne
|
|
ariation
|
|
aric
|
|
arid
|
|
arid1a
|
AT rich interactive domain 1A (SWI-like)|This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
arid1abaf250a
|
|
arid1b
|
AT rich interactive domain 1B (SWI1-like)|This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2012]
|
arid3a
|
AT rich interactive domain 3A (BRIGHT-like)|This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA binding proteins. It was found by homology to the Drosophila dead ringer gene, which is important for normal embryogenesis. Other ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation, and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]
|
arid3b
|
AT rich interactive domain 3B (BRIGHT-like)|This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA-binding proteins. The encoded protein is homologous with two proteins that bind to the retinoblastoma gene product, and also with the mouse Bright and Drosophila dead ringer proteins. A pseudogene on chromosome 1p31 exists for this gene. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]
|
arid4a
|
AT rich interactive domain 4A (RBP1-like)|The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described. [provided by RefSeq, Jul 2008]
|
arid5b
|
AT rich interactive domain 5B (MRF1-like)|This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
|
aright
|
|
arih
|
|
arih1
|
ariadne RBR E3 ubiquitin protein ligase 1|
|
arih2
|
ariadne RBR E3 ubiquitin protein ligase 2|
|
arinduced
|
|
aring
|
|
arinhibition
|
|
arip4
|
|
aripiprazole
|
A quinolone that has formula C23H27Cl2N3O2.
|
arise
|
|
arisen
|
|
arises
|
|
arising
|
|
aristaless
|
|
aristolochic
|
|
arithmetic
|
|
arix
|
|
arjp
|
|
ark5
|
|
arkadia
|
|
arkl1
|
|
arl
|
|
arl1
|
ADP-ribosylation factor-like 1|The protein encoded by this gene belongs to the ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). ARFs, described as activators of cholera toxin (CT) ADP-ribosyltransferase activity, regulate intracellular vesicular membrane trafficking, and stimulate a phospholipase D (PLD) isoform. Although, ARL proteins were initially thought not to activate CT or PLD, later work showed that they are weak stimulators of PLD and CT in a phospholipid dependent manner. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
|
arl13b
|
ADP-ribosylation factor-like 13B|This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
|
arl15
|
ADP-ribosylation factor-like 15|
|
arl16
|
ADP-ribosylation factor-like 16|
|
arl1arfaptin2
|
|
arl2
|
ADP-ribosylation factor-like 2|This gene encodes a small GTP-binding protein of the RAS superfamily which functions as an ADP-ribosylation factor (ARF). The encoded protein is one of a functionally distinct group of ARF-like genes. [provided by RefSeq, Jul 2008]
|
arl2gtpbart
|
|
arl3
|
ADP-ribosylation factor-like 3|ADP-ribosylation factor-like 3 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks ADP-ribosylation factor activity. [provided by RefSeq, Jul 2008]
|
arl3gppnhp
|
|
arl4a
|
ADP-ribosylation factor-like 4A|ADP-ribosylation factor-like 4A is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4A is similar to ARL4C and ARL4D and each has a nuclear localization signal and an unusually high guaninine nucleotide exchange rate. ARL4A is located in both the nuclear and extranuclear cell compartments. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
|
arl4ainteracting
|
|
arl4c
|
ADP-ribosylation factor-like 4C|ADP-ribosylation factor-like 4C is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4C is closely similar to ARL4A and ARL4D and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in cholesterol transport. [provided by RefSeq, Jul 2008]
|
arl4d
|
ADP-ribosylation factor-like 4D|ADP-ribosylation factor 4D is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4D is closely similar to ARL4A and ARL4C and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in membrane-associated intracellular trafficking. Mutations in this gene have been associated with Bardet-Biedl syndrome (BBS). [provided by RefSeq, Jul 2008]
|
arl5
|
|
arl6
|
ADP-ribosylation factor-like 6|The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet-Biedl syndrome (BBS). Alternative splicing results in multiple transcript variants of this gene. A vision-specific transcript encoding a different protein has been described (PMID: 20333246). [provided by RefSeq, May 2013]
|
arl7
|
|
arl701h
|
|
arl8
|
|
arl8b
|
ADP-ribosylation factor-like 8B|
|
arlts1
|
|
arm
|
A human upper limb; especially: the part between the shoulder and the wrist.
|
armadillo
|
|
armadillobetacatenin
|
|
armamentarium
|
|
armc8alpha
|
|
armc8beta
|
|
armcx2
|
armadillo repeat containing, X-linked 2|This gene encodes a protein containing a potential N-terminal transmembrane domain and multiple armadillo (arm) repeats. Proteins containing arm repeats are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is located in a cluster of related genes on chromosome X. There is a pseudogene for this gene on chromosome 7. Alternative splicing in the 5' UTR results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2013]
|
armd
|
Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms.|Degenerative changes in the macula lutea of the retina.
|
armed
|
|
armediated
|
|
armediating
|
|
armenia
|
|
armenian
|
|
armet
|
|
armigeres
|
|
arms
|
A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.|Alveolar
|
arms2
|
|
arms2htra
|
|
arms2htra1
|
|
arms2loc387715
|
|
armspcr
|
|
armsreview
|
|
armtype
|
|
armus
|
|
army
|
|
arn127
|
|
arno
|
|
arnoarf6
|
|
arnox
|
|
arnshl
|
|
arnt
|
aryl hydrocarbon receptor nuclear translocator|This gene encodes a protein containing a basic helix-loop-helix domain and two characteristic PAS domains along with a PAC domain. The encoded protein binds to ligand-bound aryl hydrocarbon receptor and aids in the movement of this complex to the nucleus, where it promotes the expression of genes involved in xenobiotic metabolism. This protein is also a co-factor for transcriptional regulation by hypoxia-inducible factor 1. Chromosomal translocation of this locus with the ETV6 (ets variant 6) gene on chromosome 12 have been described in leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]
|
arnt1
|
|
arnt2
|
aryl-hydrocarbon receptor nuclear translocator 2|This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting additional roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. [provided by RefSeq, Dec 2013]
|
arnt2hif1alpha
|
|
arnt2sim1
|
|
arntl
|
aryl hydrocarbon receptor nuclear translocator-like|The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This heterodimer binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Defects in this gene have been linked to infertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
|
arntl1
|
|
arntl2
|
aryl hydrocarbon receptor nuclear translocator-like 2|This gene encodes a basic helix-loop-helix transcription factor belonging to the PAS (PER, ARNT, SIM) superfamily. The PAS proteins play important roles in adaptation to low atmospheric and cellular oxygen levels, exposure to certain environmental pollutants, and diurnal oscillations in light and temperature. This protein forms a transcriptionally active heterodimer with the circadian CLOCK protein, the structurally related MOP4, and hypoxia-inducible factors, such as HIF1alpha. Consistent with its role as a biologically relevant partner of circadian and hypoxia factors, this protein is coexpressed in regions of the brain such as the thalamus, hypothalamus, and amygdala. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
|
arntlike
|
|
arnull
|
|
aro
|
|
aroa
|
|
aroi
|
|
arole
|
|
aromatase
|
|
aromatasedeficient
|
|
aromatic
|
|
aromaticheterocyclic
|
|
aromaticity
|
|
aromatics
|
|
aromaticturmerone
|
|
aromatization
|
|
aronj
|
|
aros
|
|
arose
|
|
around
|
|
arousal
|
|
arp
|
|
arp1
|
|
arp2
|
|
arp23
|
|
arp23based
|
|
arp23complex
|
|
arp23complexdependent
|
|
arp23dependent
|
|
arp23driven
|
|
arp23mediated
|
|
arp23vcaindependent
|
|
arp2actin
|
|
arp2arp3
|
|
arp3
|
|
arp3mediated
|
|
arp44smad1
|
|
arp6
|
|
arp7a
|
|
arpa
|
|
arpc
|
|
arpc1b
|
actin related protein 2/3 complex, subunit 1B, 41kDa|This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. This protein also has a role in centrosomal homeostasis by being an activator and substrate of the Aurora A kinase. [provided by RefSeq, Mar 2011]
|
arpc5
|
actin related protein 2/3 complex, subunit 5, 16kDa|This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p16 subunit, has yet to be determined. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
|
arpd
|
|
arpe19
|
|
arpikfyve
|
|
arpkd
|
|
arpositive
|
|
arpp
|
|
arpp21
|
cAMP-regulated phosphoprotein, 21kDa|This gene encodes a cAMP-regulated phosphoprotein. The encoded protein is enriched in the caudate nucleus and cerebellar cortex. A similar protein in mouse may be involved in regulating the effects of dopamine in the basal ganglia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
|
arq
|
|
arranged
|
|
arrangement
|
|
arrangementpositive
|
|
arrangements
|
|
array
|
An instrument which consists of nucleic acid or protein molecules bound to a substrate
|
arraybased
|
|
arraycgh
|
|
arraycomparative
|
|
arrayed
|
|
arrays
|
|
arrb1
|
arrestin, beta 1|Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 1 is a cytosolic protein and acts as a cofactor in the beta-adrenergic receptor kinase (BARK) mediated desensitization of beta-adrenergic receptors. Besides the central nervous system, it is expressed at high levels in peripheral blood leukocytes, and thus the BARK/beta-arrestin system is believed to play a major role in regulating receptor-mediated immune functions. Alternatively spliced transcripts encoding different isoforms of arrestin beta 1 have been described. [provided by RefSeq, Jan 2011]
|
arrb2
|
arrestin, beta 2|Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 2, like arrestin beta 1, was shown to inhibit beta-adrenergic receptor function in vitro. It is expressed at high levels in the central nervous system and may play a role in the regulation of synaptic receptors. Besides the brain, a cDNA for arrestin beta 2 was isolated from thyroid gland, and thus it may also be involved in hormone-specific desensitization of TSH receptors. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
|
arrdc1
|
arrestin domain containing 1|
|
arrdc3
|
arrestin domain containing 3|
|
arregulated
|
|
arresponsive
|
|
arrest
|
|
arrested
|
|
arresten
|
|
arrestin
|
|
arrestin1
|
|
arrestin2
|
|
arrestin3
|
|
arrestindependent
|
|
arrestinduced
|
|
arrestinducing
|
|
arresting
|
|
arrestinmediated
|
|
arrestins
|
|
arrestinubiquitin
|
|
arrests
|
|
arrestspecific
|
|
arrestspecific6
|
|
arrhythmia
|
Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction.
|
arrhythmiaassociated
|
|
arrhythmias
|
|
arrhythmic
|
|
arrhythmogenesis
|
|
arrhythmogenic
|
|
arrhythmogenicity
|
|
arrival
|
|
arrives
|
|
arrow
|
|
arrp
|
|
arrythmogenic
|
|
ars
|
|
ars2
|
|
arsa
|
arylsulfatase A|The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]
|
arselective
|
|
arsenal
|
|
arsenate
|
|
arsenic
|
|
arsenicals
|
|
arsenicassociated
|
|
arsenicinduced
|
|
arsenicosis
|
|
arsenicrelated
|
|
arsenicresistant
|
|
arsenictransformed
|
|
arsenite
|
|
arseniteinduced
|
|
arseniteinducible
|
|
arsenitemediated
|
|
arser81
|
|
arsg
|
arylsulfatase G|The protein encoded by this gene belongs to the sulfatase enzyme family. Sulfatases hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules. This protein displays arylsulfatase activity at acidic pH, as is typical of lysosomal sulfatases, and has been shown to localize in the lysosomes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]
|
arsgk3p70s6kcyclin
|
|
art
|
|
art27
|
|
artargeted
|
|
artd1
|
|
artd15
|
|
artd8
|
|
artd9
|
|
artefacts
|
|
artemin
|
|
artemis
|
|
artemisdeficient
|
|
artemisdnapkcs
|
|
artemisinin
|
|
arter
|
|
arterial
|
|
arterialization
|
|
arterialvenous
|
|
arteries
|
|
arteriesreview
|
|
arteriogenesis
|
The process in which the anatomical structures of arterial blood vessels are generated and organized. Arteries are blood vessels that transport blood from the heart to the body and its organs.
|
arteriogenic
|
|
arteriolar
|
|
arterioles
|
|
arteriolosclerosis
|
|
arteriopathy
|
|
arteriosclerosis
|
An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.
|
arteriosclerotic
|
|
arteriosus
|
|
arteriovenous
|
|
arteritis
|
Arterial inflammation.
|
artert
|
|
artery
|
Any of the tubular branching muscular- and elastic-walled vessels that carry blood from the heart through the body.
|
arterydisease
|
|
artesunate
|
|
artety
|
|
arthitis
|
|
arthralgia
|
Joint pain.
|
arthrinium
|
|
arthritic
|
|
arthritides
|
Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints.
|
arthritis
|
Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints.
|
arthritisassociated
|
|
arthritisfibroblastlike
|
|
arthritisinduced
|
|
arthritisjia
|
|
arthritisra
|
|
arthritisspecific
|
|
arthritogenic
|
|
arthrits
|
|
arthrogryposis
|
Persistent flexure or contracture of a joint. (Dorland, 27th ed)
|
arthropathies
|
|
arthropathy
|
A bone inflammation disease that is located_in joint.
|
arthroplasty
|
|
arthroscopic
|
|
article
|
|
articles
|
|
articular
|
The anguloarticular is a compound bone that results of the fusion of the dermal angular and the cartilaginous articular and forms the posterior part of the lower jaw. The dermal part ossifies initially on the posterolateral surface of Meckel's cartilage near the articulation with the quadrate (5.5 mm NL). A posterior process forms, creating a synovial joint with the quadrate.
|
articulate
|
|
artifact
|
|
artifacts
|
|
artificial
|
|
artificially
|
|
artistic
|
|
artmprss2ergwnt
|
|
artn
|
artemin|The protein encoded by this gene is a member of the glial cell line-derived neurotophic factor (GDNF) family of ligands which are a group of ligands within the TGF-beta superfamily of signaling molecules. GDNFs are unique in having neurotrophic properties and have potential use for gene therapy in neurodegenerative disease. Artemin has been shown in culture to support the survival of a number of peripheral neuron populations and at least one population of dopaminergic CNS neurons. Its role in the PNS and CNS is further substantiated by its expression pattern in the proximity of these neurons. This protein is a ligand for the RET receptor and uses GFR-alpha 3 as a coreceptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
|
artriosclerosis
|
|
arts
|
|
arts1associated
|
|
arts1nucleobindin
|
|
arv1
|
ARV1 homolog (S. cerevisiae)|
|
arv7
|
|
arvc
|
|
arvcf
|
armadillo repeat gene deleted in velocardiofacial syndrome|Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010]
|
arvd
|
|
arvd1
|
|
arvd2associated
|
|
arvdc
|
|
arwhhypotrichosis
|
|
arx
|
|
aryl
|
|
arylamine
|
|
arylamines
|
|
arylesterase
|
|
arylhydrocarbon
|
|
arylsulfatase
|
|
arylsulfonamide
|
|
arylsulphatase
|
|
as1
|
|
as1411
|
|
as155r
|
|
as160
|
|
as2
|
|
as2o3
|
|
as2o3induced
|
|
as3
|
|
as30d
|
|
as3mt
|
arsenite methyltransferase|AS3MT catalyzes the transfer of a methyl group from S-adenosyl-L-methionine (AdoMet) to trivalent arsenical and may play a role in arsenic metabolism (Lin et al., 2002 [PubMed 11790780]).[supplied by OMIM, Mar 2008]
|
as77
|
|
asa
|
|
asaa
|
|
asah
|
|
asah1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1|This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease. Multiple transcript variants encoding several distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
|
asap
|
|
asap1
|
ArfGAP with SH3 domain, ankyrin repeat and PH domain 1|This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
|
asap1gefh1
|
|
asap3
|
ArfGAP with SH3 domain, ankyrin repeat and PH domain 3|This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]
|
asb
|
|
asb2
|
ankyrin repeat and SOCS box containing 2|This gene encodes a member of the ankyrin repeat and SOCS box-containing (ASB) protein family. These proteins play a role in protein degradation by coupling suppressor of cytokine signalling (SOCS) proteins with the elongin BC complex. The encoded protein is a subunit of a multimeric E3 ubiquitin ligase complex that mediates the degradation of actin-binding proteins. This gene plays a role in retinoic acid-induced growth inhibition and differentiation of myeloid leukemia cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
|
asb2alphamediated
|
|
asb3
|
ankyrin repeat and SOCS box containing 3|The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2011]
|
asb9
|
ankyrin repeat and SOCS box containing 9|This gene encodes a member of the ankyrin repeat and suppressor of cytokine signaling (SOCS) box protein family. Members of this family can interact with the elongin B-C adapter complex via their SOCS box domain and further complex with the cullin and ring box proteins to form E3 ubiquitin ligase complexes. They may function to mediate the substrate-recognition of the E3 ubiquitin ligases. A transcribed pseudogene of this gene has been identified on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
|
asbestos
|
Fibrous incombustible mineral composed of magnesium and calcium silicates with or without other elements.
|
asbestosexposed
|
|
asbestosexposure
|
|
asbestosinduced
|
|
asbestosis
|
A pneumoconiosis caused by inhalation and retention of asbestos fibers.
|
asbestosrelated
|
|
asbt
|
|
asc
|
|
asc1
|
|
asc2
|
|
asca
|
|
ascadditionally
|
|
ascc
|
|
ascc1
|
activating signal cointegrator 1 complex subunit 1|This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
|
ascc3
|
activating signal cointegrator 1 complex subunit 3|This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1 complex that is involved in DNA repair and resistance to alkylation damage. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
|
ascdependent
|
|
ascending
|
|
ascent
|
|
ascertain
|
|
ascertained
|
|
ascertaining
|
|
ascertainment
|
|
asch
|
|
ascididemin
|
|
ascites
|
Accumulation of serous fluid in the spaces between tissues and organs in the cavity of the abdomen.
|
ascitesderived
|
|
ascitic
|
|
ascizdynll1
|
|
ascl1
|
achaete-scute family bHLH transcription factor 1|This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases. [provided by RefSeq, Jul 2008]
|
ascl1pathway
|
|
ascl2
|
achaete-scute family bHLH transcription factor 2|This gene is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. Involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system. [provided by RefSeq, Jul 2008]
|
ascmediated
|
|
ascochlorin
|
|
ascom
|
|
ascommll3
|
|
ascommll4
|
|
ascorbate
|
|
ascorbatedependent
|
|
ascorbateinduced
|
|
ascorbic
|
|
ascribe
|
|
ascribed
|
|
ascs
|
|
asct
|
|
asct1
|
|
asct2
|
|
asd
|
|
asdlike
|
|
asds
|
|
ase
|
|
asef
|
|
asef2
|
|
asensitive
|
|
aseptic
|
|
asf
|
|
asf1
|
|
asf1a
|
anti-silencing function 1A histone chaperone|This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The protein is a key component of a histone donor complex that functions in nucleosome assembly. It interacts with histones H3 and H4, and functions together with a chromatin assembly factor during DNA replication and repair. [provided by RefSeq, Jul 2008]
|
asf1aindependent
|
|
asf1antisilencing
|
|
asf1b
|
anti-silencing function 1B histone chaperone|This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The encoded protein is the substrate of the tousled-like kinase family of cell cycle-regulated kinases, and may play a key role in modulating the nucleosome structure of chromatin by ensuring a constant supply of histones at sites of nucleosome assembly. [provided by RefSeq, Jul 2008]
|
asf1h3h4mcm27
|
|
asfsf2
|
|
asfsf2associated
|
|
asfv
|
|
asgpr
|
|
asgr
|
|
ash
|
|
ash1
|
|
ash1l
|
ash1 (absent, small, or homeotic)-like (Drosophila)|This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]
|
ash1mediated
|
|
ash2
|
|
ash2l
|
ash2 (absent, small, or homeotic)-like (Drosophila)|
|
ashk
|
|
ashkenazi
|
|
ashkenazim
|
|
asia
|
|
asialoglycoprotein
|
|
asialogm1
|
|
asian
|
Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam.
|
asianderived
|
|
asianindian
|
In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans.
|
asianindians
|
In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans.
|
asians
|
Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam.
|
asiansmetaanalysis
|
|
asianspecific
|
|
asiansreview
|
|
asibasic
|
|
asic
|
|
asic1
|
acid sensing (proton gated) ion channel 1|This gene encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
|
asic1a
|
|
asic1a2a
|
|
asic1aasic2a
|
|
asic2
|
acid sensing (proton gated) ion channel 2|This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012]
|
asic2a
|
|
asic3
|
acid sensing (proton gated) ion channel 3|This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, two hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is an acid sensor and may play an important role in the detection of lasting pH changes. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 2 has been observed as proton-gated channels sensitive to gadolinium. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
|
asic4
|
acid sensing (proton gated) ion channel family member 4|This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. [provided by RefSeq, Feb 2012]
|
asics
|
|
aside
|
|
asiii
|
|
asiiiinduced
|
|
asinglestranded
|
|
asip
|
agouti signaling protein|In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression of the mouse gene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes. [provided by RefSeq, Jul 2008]
|
asiv
|
|
ask
|
|
ask1
|
|
ask1dependent
|
|
ask1erkp38
|
|
ask1foxo3atraddcaspase
|
|
ask1induced
|
|
ask1interacting
|
|
ask1jnk
|
|
ask1jnk1
|
|
ask1jnkp38
|
|
ask1mediated
|
|
ask1mekjnkp38bimbaxdependent
|
|
ask1mkk4jnk
|
|
ask1mkk4jnk3
|
|
ask1mkk4p38mapkjnk
|
|
ask1p38
|
|
ask1sek1jnk
|
|
ask1sek1jnk1hipk1
|
|
ask1thioredoxin
|
|
ask2
|
|
askdbf4
|
|
askl1
|
|
asl
|
argininosuccinate lyase|This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
|
asm
|
|
asm8
|
|
asma
|
|
asmase
|
|
asmc
|
|
asmcs
|
|
asmderived
|
|
asmndependent
|
|
asmt
|
|
asn
|
|
asn102
|
|
asn110
|
|
asn118asn
|
|
asn1288
|
|
asn148glu
|
|
asn175
|
|
asn248
|
|
asn289
|
|
asn290
|
|
asn302
|
|
asn306ser
|
|
asn312
|
|
asn312asn
|
|
asn40asp
|
|
asn453ser
|
|
asn49
|
|
asn78ile
|
|
asn89
|
|
asn95
|
|
asna1transmembranedomain
|
|
asna1trc40dependent
|
|
asnasn
|
|
asnresidues
|
|
asns
|
asparagine synthetase (glutamine-hydrolyzing)|The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]
|
asnser
|
|
aso
|
|
asociated
|
|
asociation
|
|
asodn
|
|
asosciated
|
|
asp
|
|
asp109tyr
|
|
asp1104
|
|
asp1104asp
|
|
asp119
|
|
asp140asp
|
|
asp142asp
|
|
asp145
|
|
asp148glu
|
|
asp1595
|
|
asp175asn
|
|
asp181
|
|
asp293
|
|
asp299gly
|
|
asp299glywere
|
|
asp312asn
|
|
asp315
|
|
asp32
|
|
asp330
|
|
asp353glu
|
|
asp358ala
|
|
asp382
|
|
asp398asn
|
|
asp40
|
|
asp421cleaved
|
|
asp42gly
|
|
asp816val
|
|
asp919gly
|
|
asparagin
|
|
asparaginase
|
|
asparagine
|
|
asparaginelinked
|
|
asparagines
|
|
asparaginyl
|
|
aspartate
|
|
aspartate187
|
|
aspartates
|
|
aspartatetotal
|
|
aspartic
|
|
aspartyl
|
|
aspartyltrna
|
|
aspasn
|
|
aspasp
|
|
aspc1
|
|
aspd
|
|
aspecific
|
|
aspect
|
|
aspects
|
|
asperger
|
|
aspergillosis
|
An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney,heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.
|
aspergillus
|
|
aspglu
|
|
aspglualaasp
|
|
asph
|
aspartate beta-hydroxylase|This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009]
|
asphishiscys
|
|
asphyxia
|
|
asphyxiated
|
|
asphyxiating
|
|
aspirate
|
|
aspirates
|
|
aspiration
|
Inspiration of a foreign object into the airway.
|
aspirations
|
|
aspirin
|
|
aspirinexacerbated
|
|
aspirininduced
|
|
aspirinintolerant
|
|
aspirinintolerantasthma
|
|
aspirinmediated
|
|
aspirinpersistent
|
|
aspirinsensitive
|
|
aspirintolerant
|
|
aspirintreated
|
|
aspl
|
|
asplenia
|
Absence (aplasia) of the spleen.
|
aspltfe3
|
|
aspm
|
asp (abnormal spindle) homolog, microcephaly associated (Drosophila)|This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]
|
aspn
|
|
asporin
|
|
aspp
|
|
aspp1
|
|
aspp2
|
|
aspp253bp2l
|
|
aspp2anksh3
|
|
aspp2betacateninecadherin
|
|
aspp2dda3
|
|
asps
|
|
aspscr1tfe3
|
|
asrs
|
|
ass
|
|
ass1
|
argininosuccinate synthase 1|The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]
|
assam
|
|
assassociated
|
|
assault
|
|
assay
|
|
assayed
|
|
assaying
|
|
assays
|
|
assciated
|
|
asscociated
|
|
asscoiated
|
|
assemble
|
|
assembled
|
|
assembles
|
|
assemblies
|
|
assembling
|
|
assembly
|
|
assemblycompromised
|
|
assemblydisassembly
|
|
assemblystability
|
|
assertion
|
|
assess
|
|
assessed
|
|
assesses
|
|
assessing
|
|
assessment
|
|
assessments
|
|
asset
|
|
assiciated
|
|
assiciation
|
|
assign
|
|
assigned
|
|
assigning
|
|
assignment
|
|
assignments
|
|
assigns
|
|
assimilation
|
|
assiociated
|
|
assist
|
|
assistance
|
|
assistant
|
|
assisted
|
|
assisting
|
|
assists
|
|
assoc
|
|
assocaited
|
|
assocated
|
|
assocation
|
|
assocciated
|
|
assocd
|
|
associ9ated
|
|
associaed
|
|
associataed
|
|
associatd
|
|
associate
|
|
associateds100a8a9
|
|
associatedubiquitin
|
|
associateed
|
|
associates
|
|
associatetd
|
|
associating
|
|
associationdissociation
|
|
associationinduced
|
|
associations
|
|
associative
|
|
associaton
|
|
associatted
|
|
associayed
|
|
associiated
|
|
associtated
|
|
associted
|
|
assocition
|
|
assocn
|
|
assocoated
|
|
assoiated
|
|
assoicated
|
|
assopciated
|
|
assoscsiated
|
|
assosiated
|
|
assosiates
|
|
asspciated
|
|
asssociaed
|
|
asssociated
|
|
asssociation
|
|
assume
|
|
assumed
|
|
assumes
|
|
assuming
|
|
assumption
|
|
assumptions
|
|
assurance
|
|
assure
|
|
assuring
|
|
ast
|
|
astalt
|
|
astaxanthin
|
|
astca1
|
|
aste1ht001
|
|
astemizole
|
|
asters
|
|
astf
|
|
asthenospermia
|
|
asthenospermic
|
|
asthenozoospermia
|
loss or reduction of the mobility of the spermatozoa, frequently associated with infertility
|
asthenozoospermic
|
|
asthma
|
A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.|Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory.|A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL).|A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, excercise, stress, reflux disease, medications, foods and emotional anxiety.
|
asthmaassociated
|
|
asthmalike
|
|
asthmarelated
|
|
asthmasusceptibility
|
|
asthmatic
|
A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.|Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory.|A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL).|A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, excercise, stress, reflux disease, medications, foods and emotional anxiety.
|
asthmatics
|
|
astigmatism
|
Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed).
|
astimulated
|
|
astn2
|
astrotactin 2|This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010]
|
astonishing
|
|
astoring
|
|
astragalus
|
|
astral
|
|
astrin
|
|
astroctye
|
|
astrocyte
|
A star-shaped cell, especially a neuroglial cell of nervous tissue.
|
astrocytederived
|
|
astrocytemediated
|
|
astrocyteproduced
|
|
astrocytes
|
|
astrocytespecific
|
|
astrocytetimp1
|
|
astrocytic
|
|
astrocytoma
|
A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation (MeSH).|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)
|
astrocytomas
|
A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation (MeSH).|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)
|
astrocytomassegas
|
|
astrocytosis
|
Proliferation of astrocytes in the area of a lesion of the central nervous system.
|
astroglia
|
Neuroglia tissue made up of astrocytes.
|
astroglial
|
|
astroglioma
|
A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation (MeSH).|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)
|
astrogliomas
|
A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation (MeSH).|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)
|
astrogliosis
|
|
astrovirus
|
|
asubunit
|
|
asun
|
asunder spermatogenesis regulator|
|
asun1
|
|
asura
|
|
asv
|
|
asxl1
|
additional sex combs like transcriptional regulator 1|This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
|
asxl2
|
additional sex combs like transcriptional regulator 2|ASXL2 is a human homolog of the Drosophila asx gene. Drosophila asx is an enhancer of trithorax (see MIM 159555) and polycomb (see MIM 610231) (ETP) gene that encodes a chromatin protein with dual functions in transcriptional activation and silencing (Katoh and Katoh, 2003 [PubMed 12888926]).[supplied by OMIM, Sep 2009]
|
asxl2mediated
|
|
asy
|
|
asyet
|
|
asyetundiscovered
|
|
asyetunidentified
|
|
asyinduced
|
|
asyip
|
|
asymmetric
|
|
asymmetrical
|
|
asymmetrically
|
|
asymmetries
|
|
asymmetry
|
|
asymptomatic
|
|
asymptotically
|
|
asyn
|
|
asynchronous
|
|
asynchrony
|
|
at1
|
|
at101
|
|
at1381
|
|
at1a
|
|
at1aas
|
|
at1ar
|
|
at1at2
|
|
at1b2r
|
|
at1cox2pge2
|
|
at1mediated
|
|
at1pkcpkd
|
|
at1r
|
|
at1ra
|
|
at1rb2r
|
|
at1receptor
|
|
at1receptors
|
|
at1rmediated
|
|
at1roserk12
|
|
at1rpositive
|
|
at2
|
|
at2r
|
|
at2r1
|
|
at2ractivity
|
|
at2receptor
|
|
at3
|
|
at4
|
|
at4r
|
|
at8
|
|
ata
|
|
ata1
|
|
ataa
|
|
atac
|
|
atacicept
|
|
atack
|
|
atad
|
|
atad2
|
ATPase family, AAA domain containing 2|A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated with diverse cellular Activities) domains. AAA family proteins often perform chaperone-like functions that assist in the assembly, operation, or disassembly of protein complexes. The protein encoded by this gene contains two AAA domains, as well as a bromodomain. [provided by RefSeq, Jul 2008]
|
atad3
|
|
atad3a
|
ATPase family, AAA domain containing 3A|ATAD3A and ATAD3B (MIM 612317) are mitochondrial membrane proteins that contribute to the stabilization of large mitochondrial DNA (mtDNA)-protein complexes called nucleoids (He et al., 2007 [PubMed 17210950]).[supplied by OMIM, Sep 2008]
|
atad3b
|
ATPase family, AAA domain containing 3B|ATAD3A (MIM 612316) and ATAD3B are mitochondrial membrane proteins that contribute to the stabilization of large mitochondrial DNA (mtDNA)-protein complexes called nucleoids (He et al., 2007 [PubMed 17210950]).[supplied by OMIM, Sep 2008]
|
atad5
|
ATPase family, AAA domain containing 5|
|
atafi
|
|
atap
|
|
atase1
|
|
atase2
|
|
ataxia
|
|
ataxiacausing
|
|
ataxias
|
|
ataxiasca
|
|
ataxiatelangiectasia
|
|
ataxiatelangiectasiamutated
|
|
ataxiatelangiectasiamutatedatm
|
|
ataxic
|
|
ataxin
|
|
ataxin1
|
|
ataxin10
|
|
ataxin1q84
|
|
ataxin2
|
|
ataxin3
|
|
ataxin7
|
|
ataxinl
|
|
ataxn1
|
|
atazanavir
|
|
atazanavirassociated
|
|
atazanavirinduced
|
|
atbf1
|
|
atbinding
|
Interacting selectively and non-covalently with oligo(A) and oligo(T) tracts of DNA (AT DNA).
|
atc
|
|
atca
|
|
atcatenin
|
|
atcatg
|
|
atcc
|
|
atcl
|
|
atcs
|
|
atctt
|
|
atd
|
|
atdc
|
|
atdc5
|
|
atdh
|
|
atdili
|
|
atdinduced
|
|
atdtolerant
|
|
ater
|
|
atf
|
|
atf1
|
activating transcription factor 1|This gene encodes an activating transcription factor, which belongs to the ATF subfamily and bZIP (basic-region leucine zipper) family. It influences cellular physiologic processes by regulating the expression of downstream target genes, which are related to growth, survival, and other cellular activities. This protein is phosphorylated at serine 63 in its kinase-inducible domain by serine/threonine kinases, cAMP-dependent protein kinase A, calmodulin-dependent protein kinase I/II, mitogen- and stress-activated protein kinase and cyclin-dependent kinase 3 (cdk-3). Its phosphorylation enhances its transactivation and transcriptional activities, and enhances cell transformation. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in angiomatoid fibrous histiocytoma and clear cell sarcoma. This gene has a pseudogene on chromosome 6. [provided by RefSeq, Aug 2010]
|
atf1and
|
|
atf2
|
activating transcription factor 2|This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions This protein binds to the cAMP-responsive element (CRE), an octameric palindrome. It forms a homodimer or a heterodimer with c-Jun and stimulates CRE-dependent transcription. This protein is also a histone acetyltransferase (HAT) that specifically acetylates histones H2B and H4 in vitro; thus it may represent a class of sequence-specific factors that activate transcription by direct effects on chromatin components. The encoded protein may also be involved in cell's DNA damage response independent of its role in transcriptional regulation. Several alternatively spliced transcript variants have been found for this gene [provided by RefSeq, Jan 2014]
|
atf2dependent
|
|
atf2jun
|
|
atf2mediated
|
|
atf2stat3
|
|
atf3
|
activating transcription factor 3|This gene encodes a member of the mammalian activation transcription factor/cAMP responsive element-binding (CREB) protein family of transcription factors. This gene is induced by a variety of signals, including many of those encountered by cancer cells, and is involved in the complex process of cellular stress response. Multiple transcript variants encoding different isoforms have been found for this gene. It is possible that alternative splicing of this gene may be physiologically important in the regulation of target genes. [provided by RefSeq, Apr 2011]
|
atf3fl
|
|
atf3nag1
|
|
atf3nfkappab
|
|
atf3silencing
|
|
atf4
|
activating transcription factor 4|This gene encodes a transcription factor that was originally identified as a widely expressed mammalian DNA binding protein that could bind a tax-responsive enhancer element in the LTR of HTLV-1. The encoded protein was also isolated and characterized as the cAMP-response element binding protein 2 (CREB-2). The protein encoded by this gene belongs to a family of DNA-binding proteins that includes the AP-1 family of transcription factors, cAMP-response element binding proteins (CREBs) and CREB-like proteins. These transcription factors share a leucine zipper region that is involved in protein-protein interactions, located C-terminal to a stretch of basic amino acids that functions as a DNA binding domain. Two alternative transcripts encoding the same protein have been described. Two pseudogenes are located on the X chromosome at q28 in a region containing a large inverted duplication. [provided by RefSeq, Sep 2011]
|
atf4deficient
|
|
atf4dependent
|
|
atf4independent
|
|
atf4mediated
|
|
atf4regulated
|
|
atf5
|
activating transcription factor 5|
|
atf5dependent
|
|
atf5targeted
|
|
atf6
|
activating transcription factor 6|This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Although it is a transcription factor, this protein is unusual in that it is synthesized as a transmembrane protein that is embedded in the ER. It functions as an ER stress sensor/transducer, and following ER stress-induced proteolysis, it functions as a nuclear transcription factor via a cis-acting ER stress response element (ERSE) that is present in the promoters of genes encoding ER chaperones. This protein has been identified as a survival factor for quiescent but not proliferative squamous carcinoma cells. There have been conflicting reports about the association of polymorphisms in this gene with diabetes in different populations, but another polymorphism has been associated with increased plasma cholesterol levels. This gene is also thought to be a potential therapeutic target for cystic fibrosis. [provided by RefSeq, Aug 2011]
|
atf6alpha
|
|
atf6alphamediated
|
|
atf6alpharhebmtor
|
|
atf6beta
|
|
atf6chop
|
|
atf6dependent
|
|
atf6mediated
|
|
atf7
|
activating transcription factor 7|
|
atf74
|
|
atf7ip
|
activating transcription factor 7 interacting protein|ATF7IP is a multifunctional nuclear protein that associates with heterochromatin. It can act as a transcriptional coactivator or corepressor depending upon its binding partners (summary by Liu et al., 2009 [PubMed 19106100]).[supplied by OMIM, Nov 2010]
|
atf7ip2
|
activating transcription factor 7 interacting protein 2|
|
atf7ipmbd1
|
|
atfcamp
|
|
atfcre
|
|
atfcreb
|
|
atg
|
|
atg1
|
|
atg101
|
|
atg12
|
autophagy related 12|Autophagy is a process of bulk protein degradation in which cytoplasmic components, including organelles, are enclosed in double-membrane structures called autophagosomes and delivered to lysosomes or vacuoles for degradation. ATG12 is the human homolog of a yeast protein involved in autophagy (Mizushima et al., 1998 [PubMed 9852036]).[supplied by OMIM, Mar 2008]
|
atg12atg3
|
|
atg12atg5
|
|
atg12atg5atg16n
|
|
atg13
|
autophagy related 13|
|
atg14
|
autophagy related 14|
|
atg14l
|
|
atg16l
|
|
atg16l1
|
autophagy related 16-like 1 (S. cerevisiae)|The protein encoded by this gene is part of a large protein complex that is necessary for autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]
|
atg16l1binding
|
|
atg16l1positive
|
|
atg16l2
|
autophagy related 16-like 2 (S. cerevisiae)|
|
atg1ulk1
|
|
atg2
|
|
atg2a
|
autophagy related 2A|
|
atg2b
|
autophagy related 2B|
|
atg3
|
autophagy related 3|This gene encodes a ubiquitin-like-conjugating enzyme and is a component of ubiquitination-like systems involved in autophagy, the process of degradation, turnover and recycling of cytoplasmic constituents in eukaryotic cells. This protein is known to play a role in regulation of autophagy during cell death. A pseudogene of this gene is located on chromosome 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
|
atg4
|
|
atg4a
|
autophagy related 4A, cysteine peptidase|Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Transcript variants that encode distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
|
atg4b
|
autophagy related 4B, cysteine peptidase|Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
|
atg4c
|
autophagy related 4C, cysteine peptidase|Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding the same protein, have been characterized. [provided by RefSeq, Jul 2008]
|
atg4d
|
autophagy related 4D, cysteine peptidase|Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene belongs to the autophagy-related protein 4 (Atg4) family of C54 endopeptidases. Members of this family encode proteins that play a role in the biogenesis of autophagosomes, which sequester the cytosol and organelles for degradation by lysosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
atg5
|
autophagy related 5|
|
atg7
|
autophagy related 7|This gene was identified based on homology to Pichia pastoris GSA7 and Saccharomyces cerevisiae APG7. In the yeast, the protein appears to be required for fusion of peroxisomal and vacuolar membranes. The protein shows homology to the ATP-binding and catalytic sites of the E1 ubiquitin activating enzymes. [provided by RefSeq, Jan 2009]
|
atg7caspase9
|
|
atg8
|
|
atg8lapg8l
|
|
atg8lc3
|
|
atg9
|
|
atg9a
|
autophagy related 9A|
|
atg9containing
|
|
atginduced
|
|
atgl
|
|
atglcgi58
|
|
atglg0s2
|
|
athabascanspeaking
|
|
athanogene
|
|
atheroclerosis
|
|
atherogenesis
|
A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA.
|
atherogenic
|
|
atherogenicity
|
|
atheroma
|
|
atheromas
|
|
atheromatosis
|
|
atheromatous
|
|
atheroprone
|
|
atheroprotection
|
|
atheroprotective
|
|
atheroscleros
|
|
atherosclerosis
|
A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA.
|
atherosclerosisassociated
|
|
atherosclerosisprone
|
|
atherosclerosisrelated
|
|
atherosclerosisreview
|
|
atherosclerotic
|
|
atherosusceptibility
|
|
atherothrombosis
|
|
atherothrombotic
|
|
athlete
|
|
athletes
|
|
athletic
|
|
athook
|
|
athymic
|
|
ati
|
|
atic
|
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase|This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009]
|
atients
|
|
atii
|
|
atiii
|
|
atiprimod
|
|
ativation
|
|
atk1
|
|
atl
|
|
atl1
|
atlastin GTPase 1|The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
atlantic
|
|
atlantoaxial
|
|
atlastin
|
|
atlastin1
|
|
atlastin2
|
|
atleast
|
|
atll
|
Aggressive T-Cell malignancy with adult onset, caused by HUMAN T-LYMPHOTROPIC VIRUS 1. It is endemic in Japan, the Caribbean basin, Southeastern United States, Hawaii, and parts of Central and South America and sub-Saharan Africa.|This type of acute lymphoblastic leukemia comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)|Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)
|
atm
|
ATM serine/threonine kinase|The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]
|
atmampk
|
|
atmatm
|
|
atmatr
|
|
atmatrchk
|
|
atmatrdependent
|
|
atmchek2p53
|
|
atmchk1
|
|
atmchk1cdc25
|
|
atmchk2
|
|
atmchk2and
|
|
atmchk2cdc25a
|
|
atmchk2mediated
|
|
atmchk2p53
|
|
atmdependent
|
|
atmin
|
ATM interactor|
|
atmindependent
|
|
atmmediated
|
|
atmmutant
|
|
atmnbs1dependent
|
|
atmnemosumoylationdependent
|
|
atmospheric
|
|
atmp53
|
|
atmp53mediated
|
|
atmp53p21
|
|
atmp95nbs1smc1
|
|
atmrad3related
|
|
atmrelated
|
|
atms
|
|
atmsignalling
|
|
atmtip60
|
|
atmtoatr
|
|
atmtraf6ciap1
|
|
atmyap1driven
|
|
atn
|
|
atn1
|
atrophin 1|Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-23 copies to 49-75 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Feb 2010]
|
atnbr1
|
|
ato
|
|
atog
|
|
atoh1
|
atonal homolog 1 (Drosophila)|This protein belongs to the basic helix-loop-helix (BHLH) family of transcription factors. It activates E-box dependent transcription along with E47. [provided by RefSeq, Jul 2008]
|
atoh7
|
atonal homolog 7 (Drosophila)|This intronless gene encodes a member of the basic helix-loop-helix family of transcription factors, with similarity to Drosophila atonal gene that controls photoreceptor development. Studies in mice suggest that this gene plays a central role in retinal ganglion cell and optic nerve formation. Mutations in this gene are associated with nonsyndromic congenital retinal nonattachment. [provided by RefSeq, Dec 2011]
|
atoh8
|
atonal homolog 8 (Drosophila)|
|
atoi
|
|
atoinduced
|
|
atom
|
|
atomic
|
|
atomiclevel
|
|
atomicresolution
|
|
atomistic
|
|
atomoxetine
|
A secondary amino compound having methyl and 3-(2-methylphenoxy)-3-phenylpropan-1-yl substituents.
|
atoms
|
|
atopic
|
|
atopics
|
|
atopy
|
|
atopyrelated
|
|
atorvastatin
|
A dihydroxy monocarboxylic acid that is a member of the drug class known as statins, used primarily for lowering blood cholesterol and for preventing cardiovascular diseases.
|
atorvastatinmediated
|
|
atorvastatinsimvastatin
|
|
atox1
|
antioxidant 1 copper chaperone|This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to ATPase proteins in the trans-Golgi network for later incorporation to the ceruloplasmin. This protein also functions as an antioxidant against superoxide and hydrogen peroxide, and therefore, may play a significant role in cancer carcinogenesis. Because of its cytogenetic location, this gene represents a candidate gene for 5q-syndrome. [provided by RefSeq, Jul 2008]
|
atp
|
|
atp10a
|
ATPase, class V, type 10A|The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008]
|
atp11b
|
ATPase, class VI, type 11B|P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005]
|
atp11c
|
ATPase, class VI, type 11C|
|
atp13a2
|
ATPase type 13A2|This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]
|
atp13a2knockdown
|
|
atp1a1
|
ATPase, Na+/K+ transporting, alpha 1 polypeptide|The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
|
atp1a2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide|The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008]
|
atp1a3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide|The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
|
atp1a4
|
ATPase, Na+/K+ transporting, alpha 4 polypeptide|The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
atp1b1
|
ATPase, Na+/K+ transporting, beta 1 polypeptide|The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been described, but their biological validity is not known. [provided by RefSeq, Mar 2010]
|
atp1b2
|
ATPase, Na+/K+ transporting, beta 2 polypeptide|The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
|
atp1b3
|
ATPase, Na+/K+ transporting, beta 3 polypeptide|The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 3 subunit. This gene encodes a beta 3 subunit. A pseudogene exists for this gene, and it is located on chromosome 2. [provided by RefSeq, Jul 2008]
|
atp2a1
|
ATPase, Ca++ transporting, cardiac muscle, fast twitch 1|This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]
|
atp2a2
|
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2|This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2008]
|
atp2b1
|
ATPase, Ca++ transporting, plasma membrane 1|The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
atp2b3
|
ATPase, Ca++ transporting, plasma membrane 3|The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 3. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
atp2b4
|
ATPase, Ca++ transporting, plasma membrane 4|The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
atp2c1
|
ATPase, Ca++ transporting, type 2C, member 1|The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
|
atp5a1
|
ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle|This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012]
|
atp5b
|
ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide|This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. [provided by RefSeq, Jul 2008]
|
atp5hkctd2
|
|
atp6
|
|
atp6ap1
|
ATPase, H+ transporting, lysosomal accessory protein 1|This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development. [provided by RefSeq, Aug 2013]
|
atp6l
|
|
atp6v0a1
|
ATPase, H+ transporting, lysosomal V0 subunit a1|This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
atp6v0d1
|
ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1|This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is known as the D subunit and is found ubiquitously. [provided by RefSeq, Jul 2008]
|
atp6v0d2interacting
|
|
atp6v1e1
|
ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1|This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]
|
atp7a
|
ATPase, Cu++ transporting, alpha polypeptide|This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]
|
atp7amediated
|
|
atp7arelated
|
|
atp7b
|
ATPase, Cu++ transporting, beta polypeptide|This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008]
|
atp7binteracting
|
|
atp8a1
|
ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1|The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
atp8a2
|
ATPase, aminophospholipid transporter, class I, type 8A, member 2|
|
atp8b1
|
ATPase, aminophospholipid transporter, class I, type 8B, member 1|This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008]
|
atpadp
|
|
atpaf1
|
ATP synthase mitochondrial F1 complex assembly factor 1|This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]
|
atpaf2
|
ATP synthase mitochondrial F1 complex assembly factor 2|This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]
|
atpase
|
|
atpase3
|
|
atpase6
|
|
atpase8
|
|
atpasedead
|
|
atpasedefective
|
|
atpasedependent
|
|
atpaseindependent
|
|
atpaseinsert
|
|
atpases
|
|
atpbinding
|
Interacting selectively and non-covalently with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
|
atpbound
|
|
atpc
|
|
atpcobialamin
|
|
atpcompetitive
|
|
atpdependant
|
|
atpdependent
|
|
atpdriven
|
|
atpenriched
|
|
atpgammas
|
|
atpgated
|
|
atpif1if1
|
|
atpindependent
|
|
atpinduced
|
|
atpinsensitive
|
|
atpmediated
|
|
atpmgpi
|
|
atpp2x4
|
|
atpresponsive
|
|
atpsensitive
|
|
atpstimulated
|
|
atptoadp
|
|
atr
|
ATR serine/threonine kinase|The protein encoded by this gene belongs the PI3/PI4-kinase family, and is most closely related to ATM, a protein kinase encoded by the gene mutated in ataxia telangiectasia. This protein and ATM share similarity with Schizosaccharomyces pombe rad3, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This kinase has been shown to phosphorylate checkpoint kinase CHK1, checkpoint proteins RAD17, and RAD9, as well as tumor suppressor protein BRCA1. Mutations of this gene are associated with Seckel syndrome. An alternatively spliced transcript variant of this gene has been reported, however, its full length nature is not known. Transcript variants utilizing alternative polyA sites exist. [provided by RefSeq, Jul 2008]
|
atr1
|
|
atr2
|
|
atra
|
|
atradependent
|
|
atrainduced
|
|
atramediated
|
|
atrap
|
|
atrassociated
|
|
atratm
|
|
atratmindependent
|
|
atratreated
|
|
atratrinteracting
|
|
atratrip
|
|
atrazine
|
A diamino-1,3,5-triazine that is 1,3,5-triazine-2,4-diamine substituted by a chloro group at position 6 while one of hydrogens of each amino group is replaced respectively by an ethyl and a propan-2-yl group.
|
atrbrca1chk1
|
|
atrcheckpoint
|
|
atrchek1
|
|
atrchk1
|
|
atrchk1cdc25
|
|
atrchk1cdc25c
|
|
atrchk1dependent
|
|
atrchk1mdmx1433gamma
|
|
atrchk2
|
|
atrdependent
|
|
atreg
|
|
atregs
|
|
atresia
|
|
atresias
|
|
atria
|
|
atrial
|
|
atrialspecific
|
|
atrich
|
|
atrinteracting
|
|
atrioventricular
|
|
atrip
|
ATR interacting protein|This gene encodes an essential component of the DNA damage checkpoint. The encoded protein binds to single-stranded DNA coated with replication protein A. The protein also interacts with the ataxia telangiectasia and Rad3 related protein kinase, resulting in its accumulation at intranuclear foci induced by DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]
|
atrisk
|
|
atrium
|
In the heart, the atrium is an upper chamber found on both sides of the heart. The left atrium receives red, oxygenated blood from the lungs by way of the pulmonary veins. The right atrium receives dark red blood from the other parts of the body.
|
atrmediated
|
|
atrogin1
|
|
atrogin1mediated
|
|
atrophic
|
|
atrophies
|
|
atrophin1interacting
|
|
atrophoderma
|
|
atrophy
|
|
atrophychoroidal
|
|
atropine
|
A racemate composed of equimolar concentrations of (S)- and (R)-atropine . It is obtained from deadly nightshade (Atropa belladonna) and other plants of the family Solanaceae.
|
atropy
|
|
atrp53
|
|
atrp53dependent
|
|
atrselective
|
|
atrt
|
|
atrtochk1
|
|
atrx
|
alpha thalassemia/mental retardation syndrome X-linked|The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2013]
|
atrxdaxx
|
|
atrxpa
|
|
ats
|
|
ats1
|
|
atsc
|
|
atsp7041
|
|
att
|
|
att20
|
|
attach
|
|
attached
|
|
attaches
|
|
attaching
|
|
attachment
|
|
attachmentindependent
|
|
attachments
|
|
attack
|
|
attackfree
|
|
attacking
|
|
attacks
|
|
attain
|
|
attainable
|
|
attained
|
|
attaining
|
|
attainment
|
|
attains
|
|
attempt
|
|
attempted
|
|
attempters
|
|
attempting
|
|
attempts
|
|
attend
|
|
attendance
|
|
attendant
|
|
attended
|
|
attendees
|
|
attending
|
|
attention
|
|
attentional
|
|
attentiondeficit
|
|
attentiondeficithyperactivity
|
|
attentuates
|
|
attenuate
|
|
attenuated
|
|
attenuates
|
|
attenuating
|
|
attenuation
|
|
attenuator
|
|
attenuators
|
|
attest
|
|
attg
|
|
attg2
|
|
attgg
|
|
attgtg
|
|
attitude
|
|
attitudes
|
|
attr
|
|
attract
|
|
attractant
|
Providing the environmental signal that initiates the directed movement of a motile cell or organism towards a higher concentration of that signal.
|
attractantactivator
|
|
attracted
|
|
attractin
|
|
attracting
|
|
attraction
|
|
attractive
|
|
attracts
|
|
attributable
|
|
attribute
|
|
attributed
|
|
attributes
|
|
attributing
|
|
attrition
|
|
attt
|
|
attt10
|
|
atx
|
|
atx1
|
|
atx3
|
|
atx7
|
|
atxagklpa
|
|
atxlpa
|
|
atxlpalpar
|
|
atxn1
|
ataxin 1|The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 41-81 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010]
|
atxn10
|
ataxin 10|This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of a pentanucleotide repeat in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]
|
atxn2
|
ataxin 2|The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene. This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 37-50 CAG repeats, compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined. [provided by RefSeq, Jan 2010]
|
atxn3
|
ataxin 3|Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2009]
|
atxn3depleted
|
|
atxn7
|
ataxin 7|The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 38-130 CAG repeats (near the N-terminus), compared to 7-17 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
|
atxn7l3
|
ataxin 7-like 3|
|
atxn7l3b
|
ataxin 7-like 3B|
|
atxn8
|
|
atxn8os
|
|
atype
|
|
atypia
|
|
atypic
|
|
atypical
|
|
atypicality
|
|
atypically
|
|
atypicalsuspicious
|
|
atz
|
|
atzdependent
|
|
aua
|
|
aubps
|
|
auc
|
|
auc0infinity
|
|
aud
|
|
audiogenic
|
|
audiogram
|
|
audiologic
|
|
audiological
|
|
audiometric
|
|
auditory
|
|
auds
|
|
auf1
|
|
auf1containing
|
|
aug
|
|
augment
|
|
augmentation
|
|
augmented
|
|
augmenter
|
|
augmenting
|
|
augments
|
|
augmin
|
|
auml
|
|
aunps
|
|
aup1
|
ancient ubiquitous protein 1|The protein encoded this gene is involved in several pathways including quality control of misfolded proteins in the endoplasmic reticulum and lipid droplet accumulation. Lipid droplets are organelles in the cytoplasm that store neutral lipids such as cholesterol esters and trigylycerides to prevent the overabundance of free cholesterol and fatty acids in cells, but also to act as storage for other metabolic processes, such as membrane biogenesis. Reduced expression of this gene results in reduced lipid droplet clustering, a function that is dependent on ubiquitination of the protein. This protein contains multiple domains including a hydrophobic N-terminal domain, an acetyltranferase domain, a ubiquitin-binding CUE domain, and a UBE2B2-binding domain (G2BR). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
|
aup1ube2g2
|
|
aupd
|
|
aupregulated
|
|
aur
|
|
aura
|
|
auramediated
|
|
auratpx2
|
|
auraunphosphorylatable
|
|
aurb
|
|
aureus
|
|
aureusinduced
|
|
aureusplatelet
|
|
aurich
|
|
auriculocondylar
|
|
aurka
|
aurora kinase A|The protein encoded by this gene is a cell cycle-regulated kinase that appears to be involved in microtubule formation and/or stabilization at the spindle pole during chromosome segregation. The encoded protein is found at the centrosome in interphase cells and at the spindle poles in mitosis. This gene may play a role in tumor development and progression. A processed pseudogene of this gene has been found on chromosome 1, and an unprocessed pseudogene has been found on chromosome 10. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
|
aurkab
|
|
aurkagsk3beta
|
|
aurkahdac6dependent
|
|
aurkaip1
|
aurora kinase A interacting protein 1|
|
aurkb
|
aurora kinase B|This gene encodes a member of the aurora kinase subfamily of serine/threonine kinases. The genes encoding the other two members of this subfamily are located on chromosomes 19 and 20. These kinases participate in the regulation of segregation of chromosomes during mitosis and meiosis through association with microtubules. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
|
aurkc
|
aurora kinase C|This gene encodes a member of the Aurora subfamily of serine/threonine protein kinases. The encoded protein is a chromosomal passenger protein that forms complexes with Aurora-B and inner centromere proteins and may play a role in organizing microtubules in relation to centrosome/spindle function during mitosis. This gene is overexpressed in several cancer cell lines, suggesting an involvement in oncogenic signal transduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
|
aurora
|
|
auroraa
|
|
auroraabora
|
|
auroraag198n
|
|
auroraageminincdt1
|
|
auroraamediated
|
|
auroraapositive
|
|
auroraarap1a
|
|
aurorab
|
|
aurorac
|
|
auroras
|
|
australasian
|
|
australia
|
|
australian
|
|
australians
|
|
austria
|
|
austrian
|
|
authentic
|
|
authenticate
|
|
author
|
|
authors
|
|
authros
|
|
autism
|
A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-IV)|An autism spectrum disease that is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior observed in children before a child is three years old.
|
autismassociated
|
|
autismcausing
|
|
autismepilepsy
|
|
autismrelated
|
|
autismspectrum
|
|
autistic
|
|
auto
|
|
autoabs
|
|
autoacetylation
|
|
autoactivated
|
|
autoactivation
|
|
autoaggressive
|
|
autoamplification
|
|
autoantibodies
|
|
autoantibody
|
|
autoantibodyassociated
|
|
autoantibodyil8
|
|
autoantibodymediated
|
|
autoantibodynegative
|
|
autoantibodypositive
|
|
autoantigen
|
|
autoantigenic
|
|
autoantigens
|
|
autocatalytic
|
|
autocatalytically
|
|
autochthonous
|
|
autocleavage
|
|
autocrine
|
|
autocrinejuxtacrine
|
|
autocrineparacrine
|
|
autodegradation
|
|
autoepitope
|
|
autofat10ylated
|
|
autofluorescence
|
|
autograft
|
|
autografts
|
|
autohsct
|
|
autoimmune
|
|
autoimmuneassociated
|
|
autoimmunelymphoproliferative
|
|
autoimmunemediated
|
|
autoimmuneprone
|
|
autoimmunerelated
|
|
autoimmunity
|
|
autoimmunityassociated
|
|
autoimmunitylymphoproliferation
|
|
autoimmunitypositive
|
|
autoimmunological
|
|
autoinduction
|
|
autoinductive
|
|
autoinflammation
|
|
autoinflammatory
|
|
autoinhibited
|
|
autoinhibition
|
|
autoinhibitory
|
|
autointegration
|
|
autoisgylation
|
|
autologous
|
|
autolysis
|
The spontaneous death by lysis of bacteria in response to environmental conditions.
|
autolysosome
|
A type of secondary lysosome in which a primary lysosome has fused with the outer membrane of an autophagosome. It is involved in the second step of autophagy in which it degrades contents with acidic lysosomal hydrolases.
|
autolysosomes
|
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autolytic
|
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automatable
|
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automated
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automatic
|
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automatically
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automaticity
|
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automethylation
|
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automimmune
|
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automobile
|
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automodification
|
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automodifying
|
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autonomic
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autonomicfunction
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autonomous
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autonomously
|
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autonomy
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autoparacrine
|
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autophagic
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autophagiclysosomal
|
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autophagicrelated
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autophagocytosis
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autophagosomal
|
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autophagosome
|
A double-membrane-bounded compartment in which endogenous cellular material is sequestered; known as autophagosome in yeast.
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autophagosomebinding
|
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autophagosomelysosome
|
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autophagosomes
|
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autophagy
|
The process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation.
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autophagyassociated
|
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autophagydeficient
|
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autophagydependent
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autophagyeradii
|
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autophagyindependent
|
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autophagyinducing
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autophagyinhibitory
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autophagyinitiating
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autophagylysosomal
|
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autophagylysosome
|
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autophagymediated
|
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autophagymultivesicular
|
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autophagyrelated
|
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autophagyspecific
|
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autophagystimulatory
|
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autophagyunrelated
|
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autophosphorylated
|
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autophosphorylates
|
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autophosphorylation
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autophosphorylationactivation
|
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autophosphorylationdependent
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autophosphorylations
|
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autoprocessing
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autoproteolysis
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autoproteolytic
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autopsied
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autopsy
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autopsyconfirmed
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autopsyproven
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autoptic
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autoreactive
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autoreactivity
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autoreceptor
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autoreceptors
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autoregulate
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autoregulated
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autoregulates
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autoregulation
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autoregulationcrossregulation
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autoregulatory
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autorepression
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autorepressive
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autosomal
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autosomaldominant
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autosomalrecessive
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autosomatic
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autosomic
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autostimulation
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autosumoylated
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autotaxin
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autotaxininduced
|
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autoubiquitination
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autoubiquitinationindependent
|
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autoubiquitylation
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autozygome
|
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autozygosity
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auts1auts5
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autumn
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auucu
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auuua
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auuuafree
|
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auxiliary
|
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auxilin
|
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auxilin1
|
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auxotrophy
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ava
|
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avaii
|
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availabilities
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availability
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available
|
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avascular
|
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avb3
|
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avb6
|
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avbeta6tgfbeta
|
|
avellino
|
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aven
|
apoptosis, caspase activation inhibitor|
|
avenue
|
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avenues
|
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average
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averagerisk
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averaging
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aversion
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aversive
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avert
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averts
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avf
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avian
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avic
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avics
|
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avid
|
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avidity
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avidityimproved
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avidly
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aviremic
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avium
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aviumhiv1
|
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avl
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avm
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avms
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avoid
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avoidance
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avoidant
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avoided
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avoiding
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avoids
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avp
|
arginine vasopressin|This gene encodes a precursor protein consisting of arginine vasopressin and two associated proteins, neurophysin 2 and a glycopeptide, copeptin. Arginine vasopressin is a posterior pituitary hormone which is synthesized in the supraoptic nucleus and paraventricular nucleus of the hypothalamus. Along with its carrier protein, neurophysin 2, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis where it is either stored or secreted into the bloodstream. The precursor is thought to be activated while it is being transported along the axon to the posterior pituitary. Arginine vasopressin acts as a growth factor by enhancing pH regulation through acid-base transport systems. It has a direct antidiuretic action on the kidney, and also causes vasoconstriction of the peripheral vessels. This hormone can contract smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. Mutations in this gene cause autosomal dominant neurohypophyseal diabetes insipidus (ADNDI). [provided by RefSeq, Mar 2010]
|
avpr1a
|
arginine vasopressin receptor 1A|The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1B, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor mediates cell contraction and proliferation, platelet aggregation, release of coagulation factor and glycogenolysis. [provided by RefSeq, Jul 2008]
|
avpr1b
|
arginine vasopressin receptor 1B|The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1A, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor is primarily located in the anterior pituitary, where it stimulates ACTH release. It is expressed at high levels in ACTH-secreting pituitary adenomas as well as in bronchial carcinoids responsible for the ectopic ACTH syndrome. A spliced antisense transcript of this gene has been reported but its function is not known. [provided by RefSeq, Jul 2008]
|
avpr2
|
arginine vasopressin receptor 2|This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus stimulating adenylate cyclase. The subfamily that includes the V2 receptor, the V1a and V1b vasopressin receptors, the oxytocin receptor, and isotocin and mesotocin receptors in non-mammals, is well conserved, though several members signal via other G proteins. All bind similar cyclic nonapeptide hormones. The V2 receptor is expressed in the kidney tubule, predominantly in the distal convoluted tubule and collecting ducts, where its primary property is to respond to the pituitary hormone arginine vasopressin (AVP) by stimulating mechanisms that concentrate the urine and maintain water homeostasis in the organism. When the function of this gene is lost, the disease Nephrogenic Diabetes Insipidus (NDI) results. The V2 receptor is also expressed outside the kidney although its tissue localization is uncertain. When these 'extrarenal receptors' are stimulated by infusion of a V2 selective agonist (dDAVP), a variety of clotting factors are released into the bloodstream. The physiologic importance of this property is not known - its absence does not appear to be detrimental in NDI patients. The gene expression has also been described in fetal lung tissue and lung cancer associated with alternative splicing. [provided by RefSeq, Jul 2008]
|
avr
|
|
avs
|
|
avsd
|
|
avulsed
|
|
avvv
|
|
await
|
|
awaited
|
|
awaiting
|
|
awaits
|
|
awake
|
|
awakening
|
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aware
|
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awareness
|
|
awas
|
|
awat1
|
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awat2
|
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away
|
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awry
|
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aws
|
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axenfeldrieger
|
|
axes
|
|
axesinduced
|
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axh
|
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axial
|
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axii
|
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axiiaxiir
|
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axiir
|
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axilla
|
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axillary
|
|
axillarynode
|
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axin
|
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axin1
|
axin 1|This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, catenin beta-1, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induce apoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, has been resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas, ovarian endometriod adenocarcinomas, and medullablastomas. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2010]
|
axin1pdia2
|
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axin2
|
axin 2|The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway, like its rodent homologs, mouse conductin/rat axil. In mouse, conductin organizes a multiprotein complex of APC (adenomatous polyposis of the colon), beta-catenin, glycogen synthase kinase 3-beta, and conductin, which leads to the degradation of beta-catenin. Apparently, the deregulation of beta-catenin is an important event in the genesis of a number of malignancies. The AXIN2 gene has been mapped to 17q23-q24, a region that shows frequent loss of heterozygosity in breast cancer, neuroblastoma, and other tumors. Mutations in this gene have been associated with colorectal cancer with defective mismatch repair. [provided by RefSeq, Jul 2008]
|
axin2gsk3betasnail1
|
|
axin2tgfa
|
|
axinbinding
|
|
axinck1alpha
|
|
axininduced
|
|
axinmediated
|
|
axis
|
The main trunk of a plant; specifically: a primary plant axis that develops buds and shoots instead of roots.
|
axisderived
|
|
axisreview
|
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axl
|
AXL receptor tyrosine kinase|The protein encoded by this gene is a member of the Tyro3-Axl-Mer (TAM) receptor tyrosine kinase subfamily. The encoded protein possesses an extracellular domain which is composed of two immunoglobulin-like motifs at the N-terminal, followed by two fibronectin type-III motifs. It transduces signals from the extracellular matrix into the cytoplasm by binding to the vitamin K-dependent protein growth arrest-specific 6 (Gas6). This gene may be involved in several cellular functions including growth, migration, aggregation and anti-inflammation in multiple cell types. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
|
axldependent
|
|
axlgas6
|
|
axlmapk
|
|
axlnegative
|
|
axlpositive
|
|
axlsignaling
|
|
axltargeted
|
|
axltyro3dcsign
|
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axoglial
|
|
axon
|
The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
|
axonal
|
|
axonemal
|
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axonemes
|
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axonglial
|
|
axonogenesis
|
De novo generation of a long process of a neuron, that carries efferent (outgoing) action potentials from the cell body towards target cells. Refers to the morphogenesis or creation of shape or form of the developing axon.
|
axonopathy
|
|
axons
|
|
axonsreview
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axotomy
|
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axud1
|
|
ayloid
|
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aystemic
|
|
az1
|
|
az95176
|
|
aza
|
|
aza6mp
|
|
azacitidine
|
|
azacytidine
|
|
azadc
|
|
azadirone
|
|
azar
|
|
azathioprine
|
A thiopurine that is 6-mercaptopurine in which the mercapto hydrogen is replaced by a 1-methyl-4-nitroimidazol-5-yl group. It is a prodrug for mercaptopurine and is used as an immunosuppressant, prescribed for the treatment of inflammatory conditions and after organ transplantation and also for treatment of Crohn's didease and MS.
|
azc
|
|
azd1152
|
|
azd6244
|
|
azd7545
|
|
azd8055
|
|
azeri
|
|
azf
|
|
azfbp4
|
|
azfc
|
|
azgp1
|
alpha-2-glycoprotein 1, zinc-binding|
|
azi
|
|
azide
|
Any nitrogen molecular entity containing the group -N3.
|
azin1
|
antizyme inhibitor 1|The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 1, the first member of this gene family that is ubiquitously expressed, and is localized in the nucleus and cytoplasm. Overexpression of antizyme inhibitor 1 gene has been associated with increased proliferation, cellular transformation and tumorigenesis. Gene knockout studies showed that homozygous mutant mice lacking functional antizyme inhibitor 1 gene died at birth with abnormal liver morphology. RNA editing of this gene, predominantly in the liver tissue, has been linked to the progression of hepatocellular carcinoma. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2014]
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azin2
|
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azipm
|
|
azithromycin
|
A macrolide antibiotic useful for the treatment of bacterial infections.
|
azole
|
|
azoospermia
|
A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen.
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azoospermialike
|
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azoospermianoa
|
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azoospermiaoligospermia
|
|
azoospermic
|
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azoreans
|
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azotemia
|
An increased concentration of nitrogen compounds in the blood.
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azt
|
|
azu1
|
azurocidin 1|Azurophil granules, specialized lysosomes of the neutrophil, contain at least 10 proteins implicated in the killing of microorganisms. The protein encoded by this gene is an azurophil granule antibiotic protein, with monocyte chemotactic and antimicrobial activity. It is also an important multifunctional inflammatory mediator. This encoded protein is a member of the serine protease gene family but it is not a serine proteinase, because the active site serine and histidine residues are replaced. The genes encoding this protein, neutrophil elastase 2, and proteinase 3 are in a cluster located at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. [provided by RefSeq, Dec 2014]
|
azurin
|
|
azurophil
|
|
azurophilic
|
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azx100
|
|
b070201
|
|
b08
|
|
b08011517
|
|
b0at
|
|
b0at1
|
|
b0at2sbat1
|
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b10
|
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b100
|
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b12
|
|
b1223
|
|
b12dependent
|
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b13
|
|
b1517
|
|
b1647
|
|
b16f1
|
|
b16f10
|
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b16f2
|
|
b17
|
|
b18r
|
|
b19
|
|
b19v
|
|
b1ar
|
|
b1associated
|
|
b1b1
|
|
b1b2
|
|
b1cb2
|
|
b1cdc2
|
|
b1cdk1
|
|
b1cdk1mediated
|
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b1dependent
|
|
b1faksrcmediated
|
|
b1integrin
|
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b1kb2
|
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b1mediated
|
|
b1r
|
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b1rdependent
|
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b1rinduced
|
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b1rs
|
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b1yb2
|
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b220
|
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b23
|
|
b23nucleophosmin
|
|
b25
|
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b27
|
|
b270505
|
|
b27positive
|
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b29
|
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b2a2
|
|
b2ar
|
|
b2ars
|
|
b2b2
|
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b2b3
|
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b2ephb4
|
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b2g1
|
|
b2m
|
beta-2-microglobulin|This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Aug 2014]
|
b2p100
|
|
b2plectin
|
|
b2r
|
|
b2ris
|
|
b302
|
|
b302spry
|
|
b35
|
|
b3541
|
|
b3906
|
|
b3a2
|
|
b3b4
|
|
b3galnt2
|
beta-1,3-N-acetylgalactosaminyltransferase 2|This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]
|
b3gat1
|
beta-1,3-glucuronyltransferase 1|The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
|
b3gnt1
|
|
b3induced
|
|
b4002
|
|
b42c17
|
|
b44
|
|
b48
|
|
b4galnt2
|
|
b4galt
|
|
b4galt1
|
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1|This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene is unique among the beta4GalT genes because it encodes an enzyme that participates both in glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamine residues that are either monosaccharides or the nonreducing ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic forms result from alternate transcription initiation sites and post-translational processing. Two transcripts, which differ only at the 5' end, with approximate lengths of 4.1 kb and 3.9 kb encode the same protein. The longer transcript encodes the type II membrane-bound, trans-Golgi resident protein involved in glycoconjugate biosynthesis. The shorter transcript encodes a protein which is cleaved to form the soluble lactose synthase. [provided by RefSeq, Jul 2008]
|
b4galt3
|
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3|This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]
|
b4galt5
|
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5|This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008]
|
b54
|
|
b55
|
|
b558
|
|
b55alpha
|
|
b56
|
|
b561
|
|
b56alpha
|
|
b56alphamediated
|
|
b56containing
|
|
b56delta
|
|
b56e
|
|
b56gamma
|
|
b56gamma1
|
|
b56gamma2
|
|
b56gamma3
|
|
b56gammapp2a
|
|
b56gammaprotein
|
|
b5703
|
|
b58
|
|
b5802
|
|
b5p450
|
|
b5rm
|
|
b6restricted
|
|
b71
|
|
b71b72
|
|
b72
|
|
b731leu11c
|
|
b7cd28
|
|
b7cd28ctla4
|
|
b7dc
|
|
b7dependent
|
|
b7h
|
|
b7h1
|
|
b7h1expressing
|
|
b7h2
|
|
b7h3
|
|
b7h4
|
|
b7h5
|
|
b7h6
|
|
b7h67d8
|
|
b7hicos
|
|
b7t
|
|
b8dr3dq2
|
|
b9d1
|
B9 protein domain 1|This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Three alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Aug 2011]
|
b9l
|
|
ba1
|
|
ba2
|
|
ba46
|
|
baalc
|
brain and acute leukemia, cytoplasmic|This gene was identified by gene expression studies in patients with acute myeloid leukemia (AML). The gene is conserved among mammals and is not found in lower organisms. Tissues that express this gene develop from the neuroectoderm. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene; however, some of the transcript variants are found only in AML cell lines. [provided by RefSeq, Jul 2008]
|
baat
|
bile acid CoA:amino acid N-acyltransferase|The protein encoded by this gene is a liver enzyme that catalyzes the transfer of C24 bile acids from the acyl-CoA thioester to either glycine or taurine, the second step in the formation of bile acid-amino acid conjugates. The bile acid conjugates then act as a detergent in the gastrointestinal tract, which enhances lipid and fat-soluble vitamin absorption. Defects in this gene are a cause of familial hypercholanemia (FHCA). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
|
baat1
|
|
babies
|
|
baboon
|
|
baboons
|
|
baby
|
|
bac
|
A carcinoma thought to be derived from epithelium of terminal bronchioles, in which the neoplastic tissue extends along the alveolar walls and grows in small masses within the alveoli. Involvement may be uniformly diffuse and massive, or nodular, or lobular. The neoplastic cells are cuboidal or columnar and form papillary structures. Mucin may be demonstrated in some of the cells and in the material in the alveoli, which also includes denuded cells. Metastases in regional lymph nodes, and in even more distant sites, are known to occur, but are infrequent. (From Stedman, 25th ed)|A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion.
|
bace
|
|
bace1
|
beta-site APP-cleaving enzyme 1|Cerebral deposition of amyloid beta peptide is an early and critical feature of Alzheimer's disease. Amyloid beta peptide is generated by proteolytic cleavage of amyloid precursor protein (APP) by two proteases, one of which is the protein encoded by this gene. The encoded protein, a member of the peptidase A1 protein family, is a type I integral membrane glycoprotein and aspartic protease that is found mainly in the Golgi. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]
|
bace1gpi
|
|
bace1interacting
|
|
bace1mediated
|
|
bace1processing
|
|
bace2
|
beta-site APP-cleaving enzyme 2|This gene encodes an integral membrane glycoprotein that functions as an aspartic protease. The encoded protein cleaves amyloid precursor protein into amyloid beta peptide, which is a critical step in the etiology of Alzheimer's disease and Down syndrome. The protein precursor is further processed into an active mature peptide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
bacel
|
|
bacemediated
|
|
bach1
|
BTB and CNC homology 1, basic leucine zipper transcription factor 1|This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2009]
|
bach1dependent
|
|
bach1fancj
|
|
bach2
|
BTB and CNC homology 1, basic leucine zipper transcription factor 2|
|
bacilli
|
|
bacillus
|
|
back
|
|
backbone
|
|
backbones
|
|
backcrossed
|
|
background
|
|
backgrounds
|
|
backgroundsa
|
|
backness
|
|
backregulation
|
|
backup
|
|
backupnonhomologous
|
|
backward
|
|
bacs
|
|
bacteraemia
|
|
bacteremia
|
An infection that has as part bacteria located in the blood.
|
bacteria
|
|
bacteriabinding
|
|
bacteriacontaining
|
|
bacteriaderived
|
|
bacteriaengaged
|
|
bacteriainduced
|
|
bacteriainfected
|
|
bacterial
|
|
bacterialderived
|
|
bacterialinduced
|
|
bacterially
|
|
bacteriatriggered
|
|
bactericidal
|
|
bacteriocidal
|
|
bacteriophage
|
|
bacteriostatic
|
|
bacterium
|
|
bacteriuminduced
|
|
bacteriuria
|
A urinary system disease which consists of the presence of bacteria in urine.
|
bacteroides
|
|
baculoviral
|
|
baculovirus
|
|
baculovirusinfected
|
|
baculovirusinsect
|
|
bacute
|
|
bad
|
BCL2-associated agonist of cell death|The protein encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be regulators of programmed cell death. This protein positively regulates cell apoptosis by forming heterodimers with BCL-xL and BCL-2, and reversing their death repressor activity. Proapoptotic activity of this protein is regulated through its phosphorylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase calcineurin were found to be involved in the regulation of this protein. Alternative splicing of this gene results in two transcript variants which encode the same isoform. [provided by RefSeq, Jul 2008]
|
badaga
|
|
badbcl2
|
|
badhypophosphorylation
|
|
badlike
|
|
badmediated
|
|
bads
|
|
badser112
|
|
baec
|
|
baf
|
|
baf155
|
|
baf155170
|
|
baf155mediated
|
|
baf170
|
|
baf180
|
|
baf250
|
|
baf250a
|
|
baf3
|
|
baf53
|
|
baf57
|
|
baf60c
|
|
baf60csix4
|
|
bafa1sensitive
|
|
baff
|
|
baffapril
|
|
baffbaffr
|
|
baffbaffrdependent
|
|
baffblys
|
|
baffcxcl12
|
|
baffmediated
|
|
baffmedicated
|
|
baffmodified
|
|
baffr
|
|
baffreceptor
|
|
baffrmediated
|
|
baffsystem
|
|
bag1
|
BCL2-associated athanogene|The oncogene BCL2 is a membrane protein that blocks a step in a pathway leading to apoptosis or programmed cell death. The protein encoded by this gene binds to BCL2 and is referred to as BCL2-associated athanogene. It enhances the anti-apoptotic effects of BCL2 and represents a link between growth factor receptors and anti-apoptotic mechanisms. Multiple protein isoforms are encoded by this mRNA through the use of a non-AUG (CUG) initiation codon, and three alternative downstream AUG initiation codons. A related pseudogene has been defined on chromosome X. [provided by RefSeq, Feb 2010]
|
bag1l
|
|
bag1m
|
|
bag1mmediated
|
|
bag1s
|
|
bag2
|
BCL2-associated athanogene 2|BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The predicted BAG2 protein contains 211 amino acids. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008]
|
bag3
|
BCL2-associated athanogene 3|BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008]
|
bag3hspb8
|
|
bag3mediated
|
|
bag4
|
BCL2-associated athanogene 4|The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. This protein was found to be associated with the death domain of tumor necrosis factor receptor type 1 (TNF-R1) and death receptor-3 (DR3), and thereby negatively regulates downstream cell death signaling. The regulatory role of this protein in cell death was demonstrated in epithelial cells which undergo apoptosis while integrin mediated matrix contacts are lost. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]
|
bag5
|
BCL2-associated athanogene 5|The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
bag6
|
BCL2-associated athanogene 6|This gene was first characterized as part of a cluster of genes located within the human major histocompatibility complex class III region. This gene encodes a nuclear protein that is cleaved by caspase 3 and is implicated in the control of apoptosis. In addition, the protein forms a complex with E1A binding protein p300 and is required for the acetylation of p53 in response to DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
bag6686936
|
|
bag6associated
|
|
bag6bat3scythe
|
|
bag6sgta
|
|
bag6ubl4atrc35
|
|
bahamas
|
|
bahrain
|
|
bahraini
|
|
bahrainis
|
|
bai
|
|
bai1
|
|
bai2
|
|
bai3
|
|
baicalein
|
A trihydroxyflavone with the hydroxy groups at positions C-5, -6 and -7.
|
baicalin
|
The glycosyloxyflavone which is the 7-O-glucuronide of baicalein.
|
baicalininduced
|
|
bais
|
|
bait
|
|
baixo
|
|
baja
|
|
bak
|
|
bak1
|
BCL2-antagonist/killer 1|The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mitochondria, and functions to induce apoptosis. It interacts with and accelerates the opening of the mitochondrial voltage-dependent anion channel, which leads to a loss in membrane potential and the release of cytochrome c. This protein also interacts with the tumor suppressor P53 after exposure to cell stress. [provided by RefSeq, Jul 2008]
|
bakbax
|
|
bakdeltac21
|
|
bakderived
|
|
bakmediated
|
|
bakt
|
|
bal
|
|
bal1
|
|
bal1bbap
|
|
bal2
|
|
bal3
|
|
balance
|
|
balanced
|
|
balances
|
|
balancing
|
|
balbc
|
BALB/c is a mouse strain of albion mice.
|
bald
|
|
balding
|
|
baldness
|
|
balf
|
|
balf5
|
|
balkan
|
|
ball
|
A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called precursor B lymphoblastic leukemia (B-cell acute lymphoblastic leukemia). When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) -- 2003
|
balloon
|
|
ballooninjured
|
|
balm1
|
|
balm3
|
|
balp
|
|
balpha
|
|
balpha1
|
|
baluchi
|
|
bam
|
|
bam32
|
|
bambi
|
BMP and activin membrane-bound inhibitor|This gene encodes a transmembrane glycoprotein related to the type I receptors of the transforming growth factor-beta (TGF-beta) family, whose members play important roles in signal transduction in many developmental and pathological processes. The encoded protein however is a pseudoreceptor, lacking an intracellular serine/threonine kinase domain required for signaling. Similar proteins in frog, mouse and zebrafish function as negative regulators of TGF-beta, which has led to the suggestion that the encoded protein may function to limit the signaling range of the TGF-beta family during early embryogenesis. [provided by RefSeq, Jul 2008]
|
bamh
|
|
bamhi
|
|
bamhie111a
|
|
bancroftian
|
|
band
|
|
banded
|
|
banding
|
|
bands
|
|
bandshift
|
|
banf1
|
barrier to autointegration factor 1|The protein encoded by this gene was first identified by its ability to protect retroviruses from intramolecular integration and therefore promote intermolecular integration into the host cell genome. The protein forms a homodimer which localizes to both the nucleus and cytoplasm and is specifically associated with chromosomes during mitosis. This protein binds to double stranded DNA in a non-specific manner and also binds to LEM-domain containing proteins of the nuclear envelope. This protein is thought to facilitate nuclear reassembly by binding with both DNA and inner nuclear membrane proteins and thereby recruit chromatin to the nuclear periphery. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Jan 2009]
|
bangladesh
|
|
bangladeshi
|
|
bani
|
|
bank
|
|
bank1
|
B-cell scaffold protein with ankyrin repeats 1|The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
|
banked
|
|
banks
|
|
bantu
|
|
bap
|
|
bap1
|
BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)|This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013]
|
bap15
|
|
bap1brafv600e
|
|
bap1mutant
|
|
bap31
|
|
bap31interacting
|
|
bapde
|
|
bapinduced
|
|
bapo
|
|
bapolipoprotein
|
|
bar
|
|
baraitserwinter
|
|
barbadian
|
|
barbados
|
|
barbed
|
|
barcelona
|
|
barchytherapy
|
|
barcode
|
|
bard
|
|
bard1
|
BRCA1 associated RING domain 1|This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
|
bard1brca1
|
|
bardetbiedl
|
|
bardetbiedle
|
|
bardomain
|
|
bare
|
|
baregulated
|
|
barely
|
|
barentsz
|
|
barf1
|
|
bariatric
|
|
bark
|
The tough exterior covering of a woody root or stem; specifically: the tissues outside the cambium that include an inner layer especially of secondary phloem and an outer layer of periderm.
|
barkor
|
|
barkoratg14l
|
|
barobiotrauma
|
|
baroreflex
|
|
barph
|
|
barr
|
|
barreett
|
|
barrel
|
|
barrets
|
|
barrett
|
|
barretts
|
|
barrettsassociated
|
|
barrier
|
|
barrierdisruptive
|
|
barrierforming
|
|
barrierprotective
|
|
barrierregulatory
|
|
barriers
|
|
barrierspecific
|
|
barriertoautointegration
|
|
barrters
|
|
bart
|
|
bartonella
|
|
barts
|
|
bartter
|
|
bartters
|
|
barttersgitelmans
|
|
barttin
|
|
barx1
|
BARX homeobox 1|This gene encodes a member of the Bar subclass of homeobox transcription factors. Studies of the mouse and chick homolog suggest the encoded protein may play a role in developing teeth and craniofacial mesenchyme of neural crest origin. The protein may also be associated with differentiation of stomach epithelia. [provided by RefSeq, Jul 2008]
|
barx2
|
BARX homeobox 2|This gene encodes a member of the homeobox transcription factor family. A highly related protein in mouse has been shown to influence cellular processes that control cell adhesion and remodeling of the actin cytoskeleton in myoblast fusion and chondrogenesis. The encoded protein may also play a role in cancer progression. [provided by RefSeq, Jul 2008]
|
basal
|
Basal is a geometric modifier describing areas associated with the base of an organism or organism part. For example, basal ganglia.
|
basalcell
|
|
basalderived
|
|
basalintermediate
|
|
basalioma
|
|
basalis
|
|
basallike
|
|
basally
|
|
basaloid
|
|
basaltype
|
|
base
|
|
basebase
|
|
based
|
|
baseexcision
|
|
baseline
|
|
basement
|
|
basepair
|
|
basepairing
|
Interacting selectively and non-covalently with nucleic acid via hydrogen bonds between the bases of a gene product molecule and the bases of a target nucleic acid molecule.
|
bases
|
|
bashkirs
|
|
bashkorstan
|
|
bashkortostan
|
|
basic
|
|
basically
|
|
basichelixloophelix
|
|
basicity
|
|
basigin
|
|
basilar
|
|
basiliximab
|
|
basin
|
|
basing
|
|
basis
|
|
basket
|
|
basketball
|
|
basolateral
|
|
basolaterally
|
|
basomedial
|
|
basonuclin
|
|
basophil
|
Mammalian granulocyte with large heterochromatic basophilic granules that contain histamine bound to a protein and heparin-like mucopolysaccharide matrix. They are not phagocytic. Very similar to mast cells though it is not clear whether they have common lineage.
|
basophilactivation
|
The change in morphology and behavior of a basophil resulting from exposure to a cytokine, chemokine, soluble factor, or to (at least in mammals) an antigen which the basophil has specifically bound via IgE bound to Fc-epsilonRI receptors.
|
basophilic
|
|
basophils
|
|
basp1
|
brain abundant, membrane attached signal protein 1|This gene encodes a membrane bound protein with several transient phosphorylation sites and PEST motifs. Conservation of proteins with PEST sequences among different species supports their functional significance. PEST sequences typically occur in proteins with high turnover rates. Immunological characteristics of this protein are species specific. This protein also undergoes N-terminal myristoylation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2012]
|
basp1prohibitin
|
|
basque
|
|
basques
|
|
bassoon
|
|
bat
|
|
bat1
|
|
bat2
|
|
bat25
|
|
bat26
|
|
bat3
|
|
bat3dependent
|
|
bat5
|
|
batf
|
basic leucine zipper transcription factor, ATF-like|The protein encoded by this gene is a nuclear basic leucine zipper protein that belongs to the AP-1/ATF superfamily of transcription factors. The leucine zipper of this protein mediates dimerization with members of the Jun family of proteins. This protein is thought to be a negative regulator of AP-1/ATF transcriptional events. [provided by RefSeq, Jul 2008]
|
batfirf4spi1runx3
|
|
bath
|
|
bathing
|
|
batimastat
|
|
batten
|
|
battery
|
|
battle
|
|
battles
|
|
baumannii
|
|
bav
|
|
bavm
|
|
bax
|
BCL2-associated X protein|The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. [provided by RefSeq, Jul 2008]
|
baxbak
|
|
baxbakdependent
|
|
baxbakindependent
|
|
baxbakmediated
|
|
baxbcl2
|
|
baxbclxl
|
|
baxcytochrome
|
|
baxdeficient
|
|
baxdependent
|
|
baxdriven
|
|
baxgfp
|
|
baximmunopositive
|
|
baxindependent
|
|
baxinduced
|
|
baxinteracting
|
|
baxmediated
|
|
baxpermeabilizing
|
|
baxproficient
|
|
baxsmac
|
|
baxtruncated
|
|
baxvdac1
|
|
bay
|
|
bayesian
|
|
bazf
|
|
bb0172
|
|
bbap
|
|
bbb
|
|
bbbcht
|
|
bbc3
|
BCL2 binding component 3|This gene encodes a member of the BCL-2 family of proteins. This family member belongs to the BH3-only pro-apoptotic subclass. The protein cooperates with direct activator proteins to induce mitochondrial outer membrane permeabilization and apoptosis. It can bind to anti-apoptotic Bcl-2 family members to induce mitochondrial dysfunction and caspase activation. Because of its pro-apoptotic role, this gene is a potential drug target for cancer therapy and for tissue injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
|
bbc3mediated
|
|
bbck
|
|
bbcrasp2
|
|
bbd
|
|
bbenefit
|
|
bbeta
|
|
bbeta148ct
|
|
bbetachain
|
|
bbf2h7
|
|
bbf2h7mediated
|
|
bbinding
|
|
bblf23
|
|
bbox
|
|
bbs
|
|
bbs1
|
Bardet-Biedl syndrome 1|Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]
|
bbs10
|
Bardet-Biedl syndrome 10|This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010]
|
bbs11
|
|
bbs12
|
Bardet-Biedl syndrome 12|The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
|
bbs2
|
Bardet-Biedl syndrome 2|This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014]
|
bbs4
|
Bardet-Biedl syndrome 4|This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with seven other BBS proteins. Alternative splice variants have been described but their predicted protein products have not been experimentally verified.[provided by RefSeq, Oct 2014]
|
bbs6
|
|
bbs7
|
Bardet-Biedl syndrome 7|This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]
|
bbs9
|
Bardet-Biedl syndrome 9|This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
bbsome
|
A protein complex that associates with the primary cilium and is involved in cilium biogenesis; consists of seven conserved proteins: BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS9.
|
bc3
|
|
bca
|
|
bca2
|
|
bcam
|
basal cell adhesion molecule (Lutheran blood group)|This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
|
bcamlulaminin
|
|
bcan
|
brevican|This gene encodes a member of the lectican family of chondroitin sulfate proteoglycans that is specifically expressed in the central nervous system. This protein is developmentally regulated and may function in the formation of the brain extracellular matrix. This protein is highly expressed in gliomas and may promote the growth and cell motility of brain tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
|
bcap
|
|
bcap37
|
|
bcar1
|
breast cancer anti-estrogen resistance 1|BCAR1, or CAS, is an Src (MIM 190090) family kinase substrate involved in various cellular events, including migration, survival, transformation, and invasion (Sawada et al., 2006 [PubMed 17129785]).[supplied by OMIM, May 2009]
|
bcar1cfdp1tmem170a
|
|
bcar1p130cas
|
|
bcar3
|
breast cancer anti-estrogen resistance 3|Breast tumors are initially dependent on estrogens for growth and progression and can be inhibited by anti-estrogens such as tamoxifen. However, breast cancers progress to become anti-estrogen resistant. Breast cancer anti-estrogen resistance gene 3 was identified in the search for genes involved in the development of estrogen resistance. The gene encodes a component of intracellular signal transduction that causes estrogen-independent proliferation in human breast cancer cells. The protein contains a putative src homology 2 (SH2) domain, a hall mark of cellular tyrosine kinase signaling molecules, and is partly homologous to the cell division cycle protein CDC48. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
|
bcar3p130cas
|
|
bcar4
|
|
bcas2
|
breast carcinoma amplified sequence 2|
|
bcas2mediated
|
|
bcas3
|
breast carcinoma amplified sequence 3|
|
bcat
|
|
bcat1
|
branched chain amino-acid transaminase 1, cytosolic|This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]
|
bcatc
|
|
bcatenin
|
|
bcatenins
|
|
bcatm
|
|
bcc
|
|
bccd
|
|
bccip
|
BRCA2 and CDKN1A interacting protein|This gene product was isolated on the basis of its interaction with BRCA2 and p21 proteins. It is an evolutionarily conserved nuclear protein with multiple interacting domains. The N-terminal half shares moderate homology with regions of calmodulin and M-calpain, suggesting that it may also bind calcium. Functional studies indicate that this protein may be an important cofactor for BRCA2 in tumor suppression, and a modulator of CDK2 kinase activity via p21. This protein has also been implicated in the regulation of BRCA2 and RAD51 nuclear focus formation, double-strand break-induced homologous recombination, and cell cycle progression. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
|
bccipalpha
|
|
bccipdependent
|
|
bccm
|
|
bccs
|
|
bcd
|
|
bcdc2
|
|
bcdin3d
|
BCDIN3 domain containing|
|
bcdk1
|
|
bcell
|
|
bcellactivating
|
|
bcellassociated
|
|
bcellderived
|
|
bcelllike
|
|
bcelllymphoma2
|
|
bcellrestricted
|
|
bcells
|
|
bcellspecific
|
|
bcg
|
|
bcgactivated
|
|
bcginduced
|
|
bcginfected
|
|
bcgvaccinated
|
|
bch
|
|
bchain
|
|
bchaindomain
|
|
bchains
|
|
bche
|
butyrylcholinesterase|Mutant alleles at the BCHE locus are responsible for suxamethonium sensitivity. Homozygous persons sustain prolonged apnea after administration of the muscle relaxant suxamethonium in connection with surgical anesthesia. The activity of pseudocholinesterase in the serum is low and its substrate behavior is atypical. In the absence of the relaxant, the homozygote is at no known disadvantage. [provided by RefSeq, Jul 2008]
|
bchek
|
|
bchronic
|
|
bcie
|
|
bckdha
|
branched chain keto acid dehydrogenase E1, alpha polypeptide|The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
|
bckdhb
|
branched chain keto acid dehydrogenase E1, beta polypeptide|Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different 3' non-coding regions, but encoding the same isoform. [provided by RefSeq, Jul 2008]
|
bckdk
|
branched chain ketoacid dehydrogenase kinase|The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
|
bcl
|
|
bcl1
|
|
bcl10
|
B-cell CLL/lymphoma 10|This gene was identified by its translocation in a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The protein encoded by this gene contains a caspase recruitment domain (CARD), and has been shown to induce apoptosis and to activate NF-kappaB. This protein is reported to interact with other CARD domain containing proteins including CARD9, 10, 11 and 14, which are thought to function as upstream regulators in NF-kappaB signaling. This protein is found to form a complex with MALT1, a protein encoded by another gene known to be translocated in MALT lymphoma. MALT1 and this protein are thought to synergize in the activation of NF-kappaB, and the deregulation of either of them may contribute to the same pathogenetic process that leads to the malignancy. [provided by RefSeq, Jul 2008]
|
bcl10dependent
|
|
bcl10malt1traf6tak1
|
|
bcl10mediated
|
|
bcl10nfkappab
|
|
bcl10nfkappabinterleukin8
|
|
bcl11a
|
B-cell CLL/lymphoma 11A (zinc finger protein)|This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
bcl11axl
|
|
bcl11b
|
B-cell CLL/lymphoma 11B (zinc finger protein)|This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. Although the specific function of this gene has not been determined, the encoded protein is known to be a transcriptional repressor, and is regulated by the NURD nucleosome remodeling and histone deacetylase complex. Four alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
|
bcl2
|
B-cell CLL/lymphoma 2|This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Two transcript variants, produced by alternate splicing, differ in their C-terminal ends. [provided by RefSeq, Jul 2008]
|
bcl2a1
|
BCL2-related protein A1|This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
bcl2adenovirus
|
|
bcl2antagonistkiller
|
|
bcl2associated
|
|
bcl2bad
|
|
bcl2bax
|
|
bcl2bcl6
|
|
bcl2bclxl
|
|
bcl2binding
|
|
bcl2dependent
|
|
bcl2expression
|
|
bcl2family
|
|
bcl2igh
|
|
bcl2immunostaining
|
|
bcl2induced
|
|
bcl2jh
|
|
bcl2l1
|
BCL2-like 1|The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Two alternatively spliced transcript variants, which encode distinct isoforms, have been reported. The longer isoform acts as an apoptotic inhibitor and the shorter form acts as an apoptotic activator. [provided by RefSeq, Jul 2008]
|
bcl2l11
|
BCL2-like 11 (apoptosis facilitator)|The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains a Bcl-2 homology domain 3 (BH3). It has been shown to interact with other members of the BCL-2 protein family and to act as an apoptotic activator. The expression of this gene can be induced by nerve growth factor (NGF), as well as by the forkhead transcription factor FKHR-L1, which suggests a role of this gene in neuronal and lymphocyte apoptosis. Transgenic studies of the mouse counterpart suggested that this gene functions as an essential initiator of apoptosis in thymocyte-negative selection. Several alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2013]
|
bcl2l12
|
BCL2-like 12 (proline rich)|This gene encodes a member of a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it binds to the p53 tumor suppressor protein, preventing its association with target genes. Overexpression of this gene has been detected in a number of different cancers. There is a pseudogene for this gene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
|
bcl2l12a
|
|
bcl2l12induced
|
|
bcl2l13
|
BCL2-like 13 (apoptosis facilitator)|This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]
|
bcl2l14
|
BCL2-like 14 (apoptosis facilitator)|The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. Overexpression of this gene has been shown to induce apoptosis in cells. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported for this gene. [provided by RefSeq, May 2009]
|
bcl2l2
|
|
bcl2like
|
|
bcl2mediated
|
|
bcl2modulated
|
|
bcl2negative
|
|
bcl2overexpressed
|
|
bcl2p53
|
|
bcl2positive
|
|
bcl2rearranged
|
|
bcl2regulated
|
|
bcl2related
|
|
bcl2s
|
|
bcl2sensitive
|
|
bcl2suppressible
|
|
bcl2topo2
|
|
bcl2translocations
|
|
bcl2triggered
|
|
bcl2vegf
|
|
bcl2xl
|
|
bcl3
|
B-cell CLL/lymphoma 3|This gene is a proto-oncogene candidate. It is identified by its translocation into the immunoglobulin alpha-locus in some cases of B-cell leukemia. The protein encoded by this gene contains seven ankyrin repeats, which are most closely related to those found in I kappa B proteins. This protein functions as a transcriptional co-activator that activates through its association with NF-kappa B homodimers. The expression of this gene can be induced by NF-kappa B, which forms a part of the autoregulatory loop that controls the nuclear residence of p50 NF-kappa B. [provided by RefSeq, Jul 2008]
|
bcl3dependent
|
|
bcl3p50
|
|
bcl3regulated
|
|
bcl6
|
B-cell CLL/lymphoma 6|The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of START-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
|
bcl6bcorsirt1
|
|
bcl6cxcr5
|
|
bcl6dependent
|
|
bcl6low
|
|
bcl6mediated
|
|
bcl6transfected
|
|
bcl6translocations
|
|
bcl6weakmum1
|
|
bcl7a
|
B-cell CLL/lymphoma 7A|This gene is directly involved, with Myc and IgH, in a three-way gene translocation in a Burkitt lymphoma cell line. As a result of the gene translocation, the N-terminal region of the gene product is disrupted, which is thought to be related to the pathogenesis of a subset of high-grade B cell non-Hodgkin lymphoma. The N-terminal segment involved in the translocation includes the region that shares a strong sequence similarity with those of BCL7B and BCL7C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
bcl9
|
B-cell CLL/lymphoma 9|BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008]
|
bcl92
|
|
bcl92b9l
|
|
bcl9betacatenin
|
|
bcl9legless
|
|
bcl9ltcell
|
|
bclaf1
|
BCL2-associated transcription factor 1|This gene encodes a transcriptional repressor that interacts with several members of the BCL2 family of proteins. Overexpression of this protein induces apoptosis, which can be suppressed by co-expression of BCL2 proteins. The protein localizes to dot-like structures throughout the nucleus, and redistributes to a zone near the nuclear envelope in cells undergoing apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
bclb
|
|
bcleaved
|
|
bclg
|
|
bclgl
|
|
bclgs
|
|
bcli
|
|
bcll
|
|
bclls
|
|
bclrambo
|
|
bclw
|
|
bclwinduced
|
|
bclx
|
|
bclxbax
|
|
bclxl
|
|
bclxlbax
|
|
bclxlbaxmediated
|
|
bclxlbcl2
|
|
bclxlbim
|
|
bclxlinduced
|
|
bclxlinduction
|
|
bclxlmediated
|
|
bclxlp53
|
|
bclxltargeting
|
|
bclxlwith
|
|
bclxs
|
|
bcm
|
|
bcma
|
|
bcmo1
|
|
bcnu
|
|
bco1
|
|
bco2
|
beta-carotene oxygenase 2|This gene encodes an enzyme which oxidizes carotenoids such as beta-carotene during the biosynthesis of vitamin A. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
|
bcontaining
|
|
bcor
|
BCL6 corepressor|The protein encoded by this gene was identified as an interacting corepressor of BCL6, a POZ/zinc finger transcription repressor that is required for germinal center formation and may influence apoptosis. This protein selectively interacts with the POZ domain of BCL6, but not with eight other POZ proteins. Specific class I and II histone deacetylases (HDACs) have been shown to interact with this protein, which suggests a possible link between the two classes of HDACs. Several transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome Y.[provided by RefSeq, Jun 2010]
|
bcorccnb3
|
|
bcorl1
|
BCL6 corepressor-like 1|The protein encoded by this gene is a transcriptional corepressor that is found tethered to promoter regions by DNA-binding proteins. The encoded protein can interact with several different class II histone deacetylases to repress transcription. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
|
bcorrara
|
|
bcpall
|
|
bcr
|
breakpoint cluster region|A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
bcr1
|
|
bcr3
|
|
bcra1
|
|
bcrabl
|
|
bcrabl1
|
|
bcrabl1induced
|
|
bcrabl1like
|
|
bcrabl1negative
|
|
bcrabl1positive
|
|
bcrabldelexon7
|
|
bcrabldependent
|
|
bcrablexpressing
|
|
bcrablinduced
|
|
bcrablmediated
|
|
bcrablnegative
|
|
bcrablpositive
|
|
bcrablraserk
|
|
bcrablregulated
|
|
bcrablstat5irf8
|
|
bcrablt315i
|
|
bcrablt315ipositive
|
|
bcrabltransformed
|
|
bcrablvecadherinbetacatenin
|
|
bcrably177
|
|
bcrcontrolled
|
|
bcrebpgc1alpha
|
|
bcrinduced
|
|
bcrjak2
|
|
bcrlike
|
|
bcrmediated
|
|
bcrp
|
|
bcrp1
|
|
bcrp1abcg2
|
|
bcrpabcg2
|
|
bcrpr482
|
|
bcrsignal
|
|
bcrsignaling
|
|
bcrtcf1
|
|
bcrtriggered
|
|
bcrystallin
|
|
bcrystallinmediated
|
|
bcs
|
|
bcs1l
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like|This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Five alternatively spliced transcripts encoding the same protein have been described. [provided by RefSeq, Mar 2012]
|
bcsc1
|
|
bcscs
|
|
bcsg1
|
|
bcss
|
|
bct
|
|
bcystatin
|
|
bd1
|
|
bd2
|
|
bd2may
|
|
bd3
|
|
bda1
|
|
bdc25
|
|
bdca1
|
|
bdca2
|
|
bdca3
|
|
bdecs
|
|
bdefensin4
|
|
bdeficient
|
|
bdependent
|
|
bdh1
|
3-hydroxybutyrate dehydrogenase, type 1|This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
|
bdh2
|
3-hydroxybutyrate dehydrogenase, type 2|
|
bdi
|
|
bdim
|
|
bdkrb
|
|
bdkrb2
|
bradykinin receptor B2|This gene encodes a receptor for bradykinin. The 9 aa bradykinin peptide elicits many responses including vasodilation, edema, smooth muscle spasm and pain fiber stimulation. This receptor associates with G proteins that stimulate a phosphatidylinositol-calcium second messenger system. Alternate start codons result in two isoforms of the protein. [provided by RefSeq, Jul 2008]
|
bdn
|
|
bdna
|
|
bdnf
|
brain-derived neurotrophic factor|The protein encoded by this gene is a member of the nerve growth factor family. It is induced by cortical neurons, and is necessary for survival of striatal neurons in the brain. Expression of this gene is reduced in both Alzheimer's and Huntington disease patients. This gene may play a role in the regulation of stress response and in the biology of mood disorders. Multiple transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Jan 2009]
|
bdnfaktbcl2
|
|
bdnfinduced
|
|
bdnfmediated
|
|
bdnfrelated
|
|
bdnfstimulated
|
|
bdnftotrkb
|
|
bdnftrkb
|
|
bdnftrkberk12
|
|
bdnftyrosine
|
|
bdnfval66metxapoexage
|
|
bdnfval66metxapoexhba1c
|
|
bdnfvariant
|
|
bdomain
|
|
bdomains
|
|
bdp1
|
B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB|The product of this gene is a subunit of the TFIIIB transcription initiation complex, which recruits RNA polymerase III to target promoters in order to initiate transcription. The encoded protein localizes to concentrated aggregates in the nucleus, and is required for transcription from all three types of polymerase III promoters. It is phosphorylated by casein kinase II during mitosis, resulting in its release from chromatin and suppression of polymerase III transcription. [provided by RefSeq, Jul 2008]
|
bdpcs
|
|
bdrb1
|
|
bea
|
|
beach
|
|
beacons
|
|
bead
|
|
beads
|
|
beam
|
|
beamline
|
|
beams
|
|
bean
|
|
bear
|
|
bearing
|
|
bears
|
|
beas2b
|
|
beat
|
|
beating
|
|
beats
|
|
beaujolais
|
|
beauty
|
|
bec
|
|
became
|
|
because
|
|
beck
|
|
becker
|
|
beckwithwiedemann
|
|
beclin
|
|
beclin1
|
|
beclin1binding
|
|
beclin1independent
|
|
beclin1mediated
|
|
beclin1pi3kmediated
|
|
becn1
|
beclin 1, autophagy related|Beclin-1 participates in the regulation of autophagy and has an important role in development, tumorigenesis, and neurodegeneration (Zhong et al., 2009 [PubMed 19270693]).[supplied by OMIM, Jul 2010]
|
becn1beclin
|
|
become
|
|
becomes
|
|
becoming
|
|
becs
|
|
bed
|
|
bednar
|
|
bedouin
|
|
bedrest
|
|
beds
|
|
bedside
|
|
bee
|
|
beef
|
|
been
|
|
beer
|
|
before
|
|
beforeduring
|
|
began
|
|
begin
|
|
beginning
|
|
begins
|
|
begun
|
|
behave
|
|
behaved
|
|
behaves
|
|
behaving
|
|
behavior
|
The internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli.
|
behavioral
|
|
behaviorally
|
|
behaviorhuman
|
|
behaviors
|
|
behaviour
|
The internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli.
|
behavioural
|
|
behaviours
|
|
behcet
|
|
behcets
|
|
behind
|
|
beige
|
|
beijing
|
|
being
|
|
beings
|
|
bel
|
|
bel1
|
|
bel5fu
|
|
bel7402
|
|
bel74025fluorouracil
|
|
bel74025fu
|
|
bel7404
|
|
belarus
|
|
belarusian
|
|
belatacept
|
|
belemene
|
|
belgian
|
|
belgians
|
|
belgium
|
|
belief
|
|
beliefs
|
|
believe
|
|
believed
|
|
belinostat
|
A hydroxamic acid-type histone deacetylase (HDAC) inhibitor with antineoplastic activity.
|
bells
|
|
bellshaped
|
|
belong
|
|
belonged
|
|
belonging
|
|
belongs
|
|
below
|
|
belowknee
|
|
belowmedian
|
|
belt
|
|
ben
|
|
benazepril
|
A benzazepine that has formula C24H28N2O5.
|
benc511
|
|
benchmarks
|
|
bend
|
|
bending
|
|
bendingtwisting
|
|
bends
|
|
bene
|
|
beneath
|
|
beneficial
|
|
beneficially
|
|
benefit
|
|
benefited
|
|
benefiting
|
|
benefits
|
|
bengal
|
|
bengalee
|
|
bengali
|
|
benificial
|
|
benign
|
For neoplasms, a non-infiltrating and non-metastasizing neoplastic process that is characterized by the absence of morphologic features associated with malignancy (e.g., severe atypia, nuclear pleomorphism, tumor cell necrosis, and abnormal mitoses). For other conditions, a process that is mild in nature and not dangerous to health.
|
benignpleural
|
|
benin
|
|
beninese
|
|
benspm
|
|
bent
|
|
benzalkonium
|
|
benzamidine
|
A carboxamidine that is benzene carrying an amidino group.
|
benzbromarone
|
|
benzene
|
A six-carbon aromatic annulene in which each carbon atom donates one of its two 2p electrons into a delocalised pi system. A toxic, flammable liquid byproduct of coal distillation, it is used as an industrial solvent. Benzene is a carcinogen that also damages bone marrow and the central nervous system.
|
benzeneexposed
|
|
benzeneinduced
|
|
benzidine
|
A biphenyl that has formula C12H12N2.
|
benzimidazole
|
A mancude organic heterobicyclic parent that is a heterocyclic organic compound comprising fused benzene and imidazole rings.
|
benzimidazoles1
|
|
benzo
|
|
benzoapyrene
|
|
benzoapyreneaccelerated
|
|
benzoapyreneinduced
|
|
benzoate
|
|
benzocphenanthrene
|
|
benzodiazepine
|
A group of two-ring heterocyclic compounds consisting of a benzene ring fused to a diazepine ring.
|
benzodiazepinone
|
|
benzofuran
|
|
benzoic
|
|
benzokfluoranthene
|
|
benzyl
|
|
benzylbenzamide
|
|
benzylguanine
|
|
benzyloxycarbonylvad
|
|
bepotastine
|
|
ber
|
In base excision repair, an altered base is removed by a DNA glycosylase enzyme, followed by excision of the resulting sugar phosphate. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase.
|
berardinelliseip
|
|
berbamine
|
An isoquinoline that has formula C37H40N2O6.
|
berberine
|
|
berberineinduced
|
|
berberines
|
|
berbers
|
|
berep4
|
|
bergmann
|
|
bernardsoulier
|
|
berp
|
|
berry
|
A simple fruit (as a currant, grape, tomato, or banana) with a pulpy or fleshy pericarp.
|
beryllium
|
|
berylliumresponsive
|
|
beside
|
|
besides
|
|
bespeaks
|
|
best
|
|
best1
|
bestrophin 1|This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008]
|
best2
|
|
best4
|
|
bestcharacterized
|
|
bestowed
|
|
bestows
|
|
bestpairing
|
|
bestrophin
|
|
bestrophins
|
|
bet
|
|
bet3tpc6b
|
|
beta
|
|
beta0thalassemia
|
|
beta1
|
|
beta10
|
|
beta1186270gamma1
|
|
beta1191619
|
|
beta12nacetlyglucosaminyltransferase
|
|
beta12nacetylglucosaminyltransferase
|
|
beta130
|
|
beta13exoglucanase
|
|
beta13galactosyltransferase
|
|
beta13glucuronosyltransferases
|
|
beta140
|
|
beta142
|
|
beta14galactosyltransferase
|
|
beta14galt
|
|
beta14galti
|
|
beta14gt1
|
|
beta14linkage
|
|
beta14nacetylgalactosaminyl
|
|
beta14nacetylglucosaminyltransferase
|
|
beta15a
|
|
beta16
|
|
beta16branched
|
|
beta16branches
|
|
beta16glcnac
|
|
beta16nglucosaminyltransferase
|
|
beta1a
|
|
beta1adrenergic
|
|
beta1adrenoceptor
|
Combining with epinephrine or norepinephrine to initiate a change in cell activity via activation of a G protein, with pharmacological characteristics of beta1-adrenergic receptors.
|
beta1ar
|
|
beta1arg389
|
|
beta1arinduced
|
|
beta1arlike
|
|
beta1armediated
|
|
beta1b
|
|
beta1beta2
|
|
beta1dependent
|
|
beta1egfrrac1dependent
|
|
beta1epsilon
|
|
beta1erk12mmp2
|
|
beta1fak
|
|
beta1focal
|
|
beta1gamma2
|
|
beta1gly389arg
|
|
beta1ibeta5i
|
|
beta1igfir
|
|
beta1induced
|
|
beta1integrin
|
|
beta1integrindependent
|
|
beta1integrininteracting
|
|
beta1integrinligand
|
|
beta1integrinmediated
|
|
beta1integrinrelated
|
|
beta1integrins
|
|
beta1laminins
|
|
beta1mediated
|
|
beta1ogalactosyltransferases
|
|
beta1pix
|
|
beta1receptor
|
|
beta1signaling
|
|
beta1subunit
|
|
beta1subunitdependent
|
|
beta1subunitindependent
|
|
beta1syntrophin
|
|
beta2
|
|
beta23
|
|
beta26b8glulys
|
|
beta2adaptin
|
|
beta2adrenergic
|
|
beta2adrenoceptor
|
Combining with epinephrine or norepinephrine to initiate a change in cell activity via activation of a G protein, with pharmacological characteristics of beta2-adrenergic receptors.
|
beta2adrenoceptors
|
|
beta2agonist
|
|
beta2agonists
|
|
beta2ar
|
|
beta2arcgrpr
|
|
beta2arinduced
|
|
beta2armediated
|
|
beta2ars
|
|
beta2asp163
|
|
beta2beta3
|
|
beta2beta3negative
|
|
beta2c
|
|
beta2chimaerin
|
|
beta2dependent
|
|
beta2glycoprotein
|
|
beta2gp1
|
|
beta2gpi
|
|
beta2gpidependent
|
|
beta2gpilpa
|
|
beta2i
|
|
beta2idomain
|
|
beta2integrin
|
|
beta2integrindependent
|
|
beta2integrins
|
|
beta2laminins
|
|
beta2m
|
|
beta2mg
|
|
beta2microglobulin
|
|
beta2microglobulinfree
|
|
beta2microglogulintati
|
|
beta2nachrs
|
|
beta2sp
|
|
beta2spectrin
|
|
beta2syntrophin
|
|
beta2tryptase
|
|
beta2tubulin
|
|
beta3
|
|
beta35
|
|
beta3adrenergic
|
|
beta3adrenoceptor
|
Combining with epinephrine or norepinephrine to initiate a change in cell activity via activation of a G protein, with pharmacological characteristics of beta3-adrenergic receptors.
|
beta3adrenoceptors
|
|
beta3adrenoreceptor
|
|
beta3ar
|
|
beta3beta2
|
|
beta3beta3
|
|
beta3dependent
|
|
beta3endonexin
|
|
beta3galt4
|
|
beta3galt5
|
|
beta3gamma2
|
|
beta3gnt1
|
|
beta3gnt2
|
|
beta3gnt7
|
|
beta3gnt8
|
|
beta3gntl1
|
|
beta3integrin
|
|
beta3lncap
|
|
beta3mediated
|
|
beta3met227
|
|
beta3strand
|
|
beta3subunit
|
|
beta3tail
|
|
beta4
|
|
beta42
|
|
beta4associated
|
|
beta4beta5
|
|
beta4c
|
|
beta4dependent
|
|
beta4galnact3
|
|
beta4galnact4
|
|
beta4galt1
|
|
beta4galt4
|
|
beta4galt7
|
|
beta4integrin
|
|
beta4mediated
|
|
beta4nachrs
|
|
beta5
|
|
beta511
|
|
beta5i
|
|
beta5t
|
|
beta6
|
|
beta6a3gluval
|
|
beta7
|
|
beta7c494c526
|
|
beta7integrinindependent
|
|
beta8
|
|
beta8strand
|
|
betaa
|
|
betaa3a1crystallin
|
|
betaa3crystallin
|
|
betaabeta
|
|
betaacc2
|
|
betaact
|
|
betaactin
|
|
betaactinarp4
|
|
betaactininvolved
|
|
betaactintric
|
|
betaactivated
|
|
betaadaptins
|
|
betaadducin
|
|
betaadrenergic
|
|
betaadrenoceptor
|
Combining with epinephrine or norepinephrine to initiate a change in cell activity via activation of a G protein, with pharmacological characteristics of beta-adrenergic receptors; the activity involves transmitting the signal to the Gs alpha subunit of a heterotrimeric G protein.
|
betaadrenoceptormediated
|
|
betaadrenoceptors
|
|
betaadrenoreceptor
|
|
betaaggregation
|
|
betaagonist
|
|
betaagonists
|
|
betaalanine
|
|
betaalpha
|
|
betaamyloid
|
|
betaamyloid140
|
|
betaamyloid142
|
|
betaamyloid42
|
|
betaamyloidassociated
|
|
betaamyrin
|
|
betaapo14carotenal
|
|
betaapp
|
|
betaar
|
|
betaark1associated
|
|
betaarr
|
|
betaarr1
|
|
betaarr2
|
|
betaarrestin
|
|
betaarrestin1
|
|
betaarrestin1dependent
|
|
betaarrestin1jnk
|
|
betaarrestin2
|
|
betaarrestin2dependent
|
|
betaarrestin2mediated
|
|
betaarrestinassociated
|
|
betaarrestinbiased
|
|
betaarrestindependent
|
|
betaarrestinmediated
|
|
betaarrestins
|
|
betaarrestins1
|
|
betaarrestinscaffolded
|
|
betaarretin
|
|
betaarrs
|
|
betaars
|
|
betaasp99
|
|
betaassociated
|
|
betab
|
|
betab1
|
|
betab1crystallin
|
|
betab1crystallins
|
|
betab2
|
|
betab2crystallin
|
|
betabarrel
|
|
betabinding
|
|
betablockade
|
|
betablocker
|
|
betablockers
|
|
betabone
|
|
betabsubunit
|
|
betabulge
|
|
betac
|
|
betacarbon
|
|
betacardiac
|
|
betacargo
|
|
betacarotene
|
|
betacasein
|
|
betacat
|
|
betacatenin
|
|
betacatenina
|
|
betacateninactivated
|
|
betacateninactive
|
|
betacateninassociated
|
|
betacateninbcl9like
|
|
betacateninbinding
|
Interacting selectively and non-covalently with the beta subunit of the catenin complex.
|
betacatenincmyc
|
|
betacatenindegrading
|
|
betacatenindependent
|
|
betacateninecadherin
|
|
betacateningsk3beta
|
|
betacateninhur
|
|
betacateninindependent
|
|
betacatenininteracting
|
|
betacateninlef1
|
|
betacateninlinked
|
|
betacateninmediated
|
|
betacateninp300
|
|
betacateninregulated
|
|
betacateninresponsive
|
|
betacateninret
|
|
betacatenins
|
|
betacateninsignaling
|
|
betacatenint
|
|
betacatenintcell
|
|
betacatenintcellfactordependent
|
|
betacatenintcf
|
|
betacatenintcf1
|
|
betacatenintcf4
|
|
betacatenintcf4dependent
|
|
betacatenintcf4mediated
|
|
betacatenintcf4survivin
|
|
betacatenintcf7l2
|
|
betacatenintcfactivated
|
|
betacatenintcfbound
|
|
betacatenintcfdependent
|
|
betacatenintcflef
|
|
betacatenintcflef1
|
|
betacatenintcflefdependent
|
|
betacatenintcfmediated
|
|
betacatenintcfs
|
|
betacatenintriggered
|
|
betacateninwnt
|
|
betacattcf4
|
|
betacell
|
|
betacellenriched
|
|
betacelllike
|
|
betacells
|
|
betacellspecific
|
|
betacellulin
|
|
betacellulinmediated
|
|
betacfamily
|
|
betachain
|
|
betachains
|
|
betachemokines
|
|
betacki
|
|
betacleavage
|
|
betacomponent
|
|
betacop
|
|
betacr
|
|
betacryptoxanthin
|
|
betacrystallin
|
|
betacrystallins
|
|
betactx
|
|
betacya
|
|
betacyclodextrin
|
|
betacytoplasmic
|
|
betadefensin
|
|
betadefensin1
|
|
betadefensin2
|
|
betadefensin3
|
|
betadefensins
|
|
betadefensins1
|
|
betadelta
|
|
betadeltacore
|
|
betadependent
|
|
betadna
|
|
betadomain
|
|
betadystrobrevin
|
|
betadystroglycan
|
|
betae
|
|
betaenac
|
|
betaendorphin
|
|
betaenin
|
|
betaenos
|
|
betaestradiol
|
|
betaesubunits
|
|
betaexon
|
|
betaf1
|
|
betaf1atpase
|
|
betafak
|
|
betafibrinogen
|
|
betaform
|
|
betafoxa2
|
|
betagadd45
|
|
betagal
|
|
betagalactose
|
|
betagalactosidase
|
|
betagalactoside
|
|
betagamma
|
|
betagene
|
|
betaglobin
|
|
betaglucan
|
|
betaglucanbearing
|
|
betaglucans
|
|
betaglucocerebrosidase
|
|
betaglucosidase
|
|
betaglucuronidase
|
|
betaglycan
|
|
betagoblin
|
|
betagt3
|
|
betagt4
|
|
betahairpin
|
|
betahb
|
|
betahcg
|
|
betahelical
|
|
betahelix
|
|
betahematin
|
|
betahemoglobin
|
|
betahemoglobinopathy
|
|
betahexosaminidase
|
|
betahexosaminidases
|
|
betahnenac
|
|
betahpv
|
|
betahsd
|
|
betahsd1
|
|
betahsd2
|
|
betahydroxybetamethylbutyrate
|
|
betahydroxybetamethylbutyratefree
|
|
betahydroxylase
|
|
betahydroxysteroid
|
|
betai
|
|
betaigh3
|
|
betaii
|
|
betaiii
|
|
betaiiit
|
|
betaiiitubulin
|
|
betaiitubulin
|
|
betail3
|
|
betaindependent
|
|
betainduced
|
|
betaine
|
|
betainehomocysteine
|
|
betaintegrin
|
|
betaintegrinindependent
|
|
betainterferon
|
|
betaisotypes
|
|
betajak3stat5b
|
|
betaketoacyl
|
|
betaklotho
|
|
betaklothoindependent
|
|
betalactam
|
|
betalactams
|
|
betalapachone
|
|
betalike
|
|
betamediated
|
|
betamelanocortin
|
|
betamethylaminolalanine
|
|
betamicroseminoprotein
|
|
betamkk7
|
|
betamodulatory
|
|
betamrna
|
|
betamsh
|
|
betamshmc4r
|
|
betamutationderived
|
|
betamyhc
|
|
betamyosin
|
|
betanacetyldglucosaminidase
|
|
betanacetylglucosamine
|
|
betanad
|
|
betanaphthoflavone
|
|
betaneurexin
|
|
betanfkappab
|
|
betangf
|
|
betaoestradioldependent
|
|
betaoligomers
|
|
betaoxidation
|
|
betaparvin
|
|
betapde
|
|
betapdgfr
|
|
betapeptide
|
|
betapeptides
|
|
betapix
|
|
betapixs
|
|
betapixwaspspin90
|
|
betaplus
|
|
betapol
|
|
betapromoter
|
|
betapropeller
|
|
betaprotein
|
|
betaprotein142
|
|
betaproteininduced
|
|
betaprotryptases
|
|
betarangtp
|
|
betareceptor
|
|
betareceptors
|
|
betaregulated
|
|
betaretinoid
|
|
betarich
|
|
betas
|
|
betasandwich
|
|
betasarcoglycan
|
|
betasbetathal
|
|
betase
|
|
betasecretase
|
|
betasecretase1
|
|
betasecretases
|
|
betaselection
|
The process in which successful recombination of a T cell receptor beta chain into a translatable protein coding sequence leads to rescue from apoptosis and subsequent proliferation of an immature T cell.
|
betasglobules
|
|
betasheet
|
|
betasheetamyloidprone
|
|
betasheetrich
|
|
betasheets
|
|
betasite
|
|
betasites
|
|
betasitosterol
|
|
betasmmhc
|
|
betaspectrin
|
|
betastrand
|
|
betastrands
|
|
betastrandturnbetastrand
|
|
betastructure
|
|
betasubunit
|
|
betasubunits
|
|
betasyn
|
|
betasynemin
|
|
betasynthase
|
|
betasynuclein
|
|
betatail
|
|
betataxilin
|
|
betatcpthe
|
|
betatectorin
|
|
betatg
|
|
betatglike
|
|
betathal
|
|
betathalassaemia
|
|
betathalassaemic
|
|
betathalassemia
|
|
betathalassemic
|
|
betathromboglobulin
|
|
betathymosins
|
|
betatm
|
|
betatp
|
|
betatrace
|
|
betatransducin
|
|
betatrcp
|
|
betatrcp1
|
|
betatrcp1mediated
|
|
betatrcp2
|
|
betatrcpcontaining
|
|
betatrcpdependent
|
|
betatrcpdriven
|
|
betatrcpmediated
|
|
betatrcprest
|
|
betatrcps
|
|
betatrcpscf
|
|
betatrefoil
|
|
betatropomyosin
|
|
betatryptase
|
|
betatub
|
|
betatubulin
|
|
betatubulincctbeta
|
|
betatubulinssfluorobenzyl
|
|
betaturn
|
|
betatype
|
|
betaunsaturated
|
|
betaxolol
|
A propanolamine that is 3-aminopropane-1,2-diol in which the hydrogen of the primary hydoxy is substituted by a 4-[2-(cyclopropylmethoxy)ethyl]phenyl group and one of the hydrogens attached to the amino group is substituted by isopropyl. It is a selective beta1-receptor blocker and is used in the treatment of glaucoma as well as hypertension, arrhythmias, and coronary heart disease. It is also used to reduce non-fatal cardiac events in patients with heart failure.
|
betazeta
|
|
betel
|
|
betelquid
|
|
bethesda
|
|
bethlem
|
|
better
|
|
betulinic
|
|
betweeen
|
|
betweenindividual
|
|
betweenstudy
|
|
betweenthe
|
|
betwwen
|
|
bevacizumab
|
|
beverage
|
|
beverages
|
|
beween
|
|
bewo
|
|
bewteen
|
|
bex1
|
brain expressed, X-linked 1|
|
bex2
|
brain expressed X-linked 2|This gene belongs to the brain expressed X-linked gene family. The encoded protein interacts with the transcription factor LIM domain only 2 in a DNA-binding complex that recognizes the E-box element and promotes transcription. This gene has been found to be a tumor suppressor that is silenced in human glioma. In breast cancer cells, this gene product modulates apoptosis in response to estrogen and tamoxifen, and enhances the anti-proliferative effect of tamoxifen. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
|
bexarotene
|
|
beyond
|
|
bezafibrate
|
|
bf1
|
|
bf3
|
|
bfa
|
|
bfaadpribose
|
|
bfabp
|
|
bfar
|
bifunctional apoptosis regulator|
|
bfbts
|
|
bfgf
|
|
bfgf2
|
|
bfgfbasic
|
|
bfgfdependent
|
|
bfgfdirected
|
|
bfgffgfr1pi3krac1
|
|
bfgfinduced
|
|
bfgfmediated
|
|
bfh
|
|
bfic
|
|
bfis
|
|
bfl1
|
|
bfl1a1
|
|
bfmtreated
|
|
bfnc
|
|
bform
|
|
bfp60
|
|
bfsp1
|
beaded filament structural protein 1, filensin|This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
bfsp2
|
beaded filament structural protein 2, phakinin|More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009]
|
bft
|
|
bfue
|
|
bgc823
|
|
bgin
|
|
bglap
|
bone gamma-carboxyglutamate (gla) protein|
|
bglf4
|
|
bgli
|
|
bgliib
|
|
bgn
|
biglycan|The protein encoded by this gene is a small cellular or pericellular matrix proteoglycan that is closely related in structure to two other small proteoglycans, decorin and fibromodulin. The encoded protein and decorin are thought to be the result of a gene duplication. Decorin contains one attached glycosaminoglycan chain, while this protein probably contains two chains. For this reason, this protein is called biglycan. This protein plays a role in assembly of collagen fibrils and muscle regeneration. It interacts with several proteins involved in muscular dystrophy, including alpha-dystroglycan, alpha- and gamma-sarcoglycan and collagen VI, and it is critical for the assembly of the dystrophin-associated protein complex. [provided by RefSeq, Nov 2009]
|
bgp
|
|
bgs
|
|
bgscs
|
|
bgt1
|
|
bh1
|
|
bh2
|
|
bh3
|
|
bh3like
|
|
bh3m6
|
|
bh3only
|
|
bh4
|
|
bhc
|
|
bhc80
|
|
bhd
|
|
bhec1mps1
|
|
bhecets
|
|
bhk21
|
|
bhkabca1
|
|
bhlh
|
|
bhlhb2
|
|
bhlhb3
|
|
bhlhe40
|
basic helix-loop-helix family, member e40|This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. [provided by RefSeq, Feb 2014]
|
bhlhe41
|
basic helix-loop-helix family, member e41|This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype. [provided by RefSeq, Feb 2014]
|
bhlhlz
|
|
bhlhpas
|
|
bhmt
|
betaine--homocysteine S-methyltransferase|This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. [provided by RefSeq, Jul 2008]
|
bhmt2
|
betaine--homocysteine S-methyltransferase 2|Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases that can catalyze the transfer of the methyl group from betaine to homocysteine. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
|
bholes
|
|
bhr
|
|
bhrf1
|
|
bi1
|
|
bia
|
|
biaka
|
|
biallelic
|
|
biallelically
|
|
bias
|
|
biased
|
|
biases
|
|
biasing
|
|
biaspartic
|
|
bibc
|
|
bibi
|
|
bibp3226
|
|
bibr1532
|
|
bibw2992
|
|
bic
|
|
bicalutamide
|
A sulfone that is an oral non-steroidal antiandrogen used in the treatment of prostate cancer and hirsutism.
|
bicarbonate
|
|
bicarbonatecontrolled
|
|
bicaudal
|
|
bicaudald1
|
|
bicd1
|
bicaudal D homolog 1 (Drosophila)|This gene is one of two human homologs of Drosophila bicaudal-D. It has been implicated in COPI-independent membrane transport from the Golgi apparatus to the endoplasmic reticulum. Two alternative splice variants have been described. Other alternative splice variants that encode different protein isoforms have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
|
bicd2
|
bicaudal D homolog 2 (Drosophila)|This gene is one of two human homologs of Drosophila bicaudal-D and a member of the Bicoid family. It has been implicated in dynein-mediated, minus end-directed motility along microtubules. It has also been reported to be a phosphorylation target of NIMA related kinase 8. Two alternative splice variants have been described. [provided by RefSeq, Jul 2008]
|
bicd2n
|
|
bicd2positive
|
|
biceps
|
A muscle having two heads: as a: the large flexor muscle of the front of the upper arm b: the large flexor muscle of the back of the upper leg.
|
bicistronic
|
|
bicp0
|
|
bicuspid
|
|
bicyclic123triazoles
|
|
bid
|
BH3 interacting domain death agonist|This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]
|
biddependent
|
|
bidentate
|
|
bidindependent
|
|
bidinduced
|
|
bidirectional
|
|
bidirectionally
|
|
bidmediated
|
|
bidsilenced
|
|
biettis
|
|
bif1
|
|
bif1dependent
|
|
bifaceted
|
|
bifid
|
|
bifida
|
|
bifidobacterium
|
|
bifidum
|
|
bifunctional
|
|
bifurcate
|
|
bifurcates
|
|
bifurcation
|
|
big
|
|
big1
|
|
big12
|
|
big2
|
|
big3
|
|
big3wrd5phb2
|
|
bigene
|
|
bigenic
|
|
biget
|
|
bigger
|
|
bigh3
|
|
biglycan
|
|
bigs
|
|
biguanide
|
|
biii
|
|
biiii
|
|
bik
|
BCL2-interacting killer (apoptosis-inducing)|The protein encoded by this gene shares a critical BH3 domain with other death-promoting proteins, such as BID, BAK, BAD and BAX, that is required for its pro-apoptotic activity, and for interaction with anti-apoptotic members of the BCL2 family, and viral survival-promoting proteins. Since the activity of this protein is suppressed in the presence of survival-promoting proteins, it is suggested as a likely target for anti-apoptotic proteins. [provided by RefSeq, Sep 2011]
|
bike
|
|
bikunin
|
|
bilary
|
|
bilateral
|
|
bilaterality
|
|
bilaterally
|
|
bilaterian
|
|
bilayer
|
|
bilayerbound
|
|
bilayers
|
|
bile
|
A fluid secreted by the liver and poured into the small intestine via the bile ducts. Important constituents are conjugated bile salts, cholesterol, phospholipid, bilirubin diglucuronide, and electrolytes. Bile is alkaline due to its bicarbonate content, is golden brown to greenish yellow in color, and has a bitter taste. Bile secreted by the liver is concentrated in the gallbladder.
|
bileacid
|
|
bileacidstimulated
|
|
bileinduced
|
|
bilf1
|
|
bilharzial
|
|
bilharziasis
|
|
biliary
|
|
biliaryprogenitor
|
|
biliopancreatic
|
|
bilirubin
|
A member of the class of biladienes that is a linear tetrapyrrole, product of heme degradation. It is produced in the reticuloendothelial system by the reduction of biliverdin and transported to the liver as a complex with serum albumin.
|
bilirubinmediated
|
|
biliverdin
|
A linear tetrapyrrole produced in the reticuloendothelial system by the first step of heme degradation, catalysed by heme oxygenase.
|
billion
|
|
biloba
|
|
bilobed
|
|
bim
|
|
bim1p
|
|
bim23a760
|
|
bimatoprost
|
|
bimdependent
|
|
bimel
|
|
bimelbclxl
|
|
bimelmcl1
|
|
biminduced
|
|
biml
|
|
bimmediated
|
|
bimodal
|
|
bimodally
|
|
bimodular
|
|
bimolecular
|
|
bims
|
|
bimutations
|
|
bin1
|
bridging integrator 1|This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in ten transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Sep 2011]
|
bin1ku
|
|
binary
|
|
binase
|
|
bincard
|
|
bind
|
|
binded
|
|
binder
|
|
binders
|
|
bindin
|
|
binding3
|
|
bindingautoactivation
|
|
bindingchannel
|
|
bindingcompetent
|
|
bindingdependent
|
|
bindingdimerization
|
|
bindingegf
|
|
bindingindependent
|
|
bindinginduced
|
|
bindinginternalization
|
|
bindingpartners
|
|
bindingprotein
|
|
bindingrelease
|
|
bindings
|
|
bindingsite
|
|
bindingtransport
|
|
bindnig
|
|
binds
|
|
binduced
|
|
binducing
|
|
binet
|
|
binge
|
|
bingeeating
|
binge eating with or without purging
|
bingeeatingpurging
|
|
binging
|
|
binuclear
|
|
binucleate
|
two nuclei present per cell body when one is expected; often due to failed cytokinesis
|
binucleated
|
|
binucleation
|
|
bio
|
|
bioactivating
|
|
bioactivation
|
|
bioactive
|
|
bioactivities
|
|
bioactivity
|
|
bioassay
|
|
bioavailability
|
|
bioavailable
|
|
biochanina
|
|
biocharacter
|
|
biochemiacl
|
|
biochemical
|
|
biochemically
|
|
biochemistries
|
|
biochemistry
|
|
bioconversion
|
|
biodegradable
|
|
biodisposition
|
|
biodistribution
|
|
bioenergetic
|
|
bioenergetics
|
|
biofilm
|
A thin usually resistant layer of microorganisms (as bacteria) that form on and coat various surfaces (as of water pipes and catheters).
|
biofilms
|
|
biofunctions
|
|
biogenesis
|
|
biogenesisrelated
|
|
biogenic
|
|
bioinformatic
|
|
bioinformaticallydirected
|
|
bioinformatics
|
|
biol
|
|
biologcial
|
|
biologic
|
|
biological
|
|
biologicallink
|
|
biologically
|
|
biologicallyclinically
|
|
biology
|
|
biologybased
|
|
biologyreview
|
|
bioluminescence
|
The production of light by certain enzyme-catalyzed reactions in cells.
|
bioluminescent
|
|
biomaker
|
|
biomakers
|
|
biomarker
|
|
biomarkers
|
|
biomarks
|
|
biomass
|
|
biomaterial
|
|
biomaterialmodulated
|
|
biomechanical
|
|
biomechanics
|
|
biomedical
|
|
biomembrane
|
|
biometal
|
|
biometric
|
|
biomimetic
|
|
biomineralization
|
Formation of hard tissues that consist mainly of inorganic compounds, and also contain a small amounts of organic matrices that are believed to play important roles in their formation.
|
biomolecular
|
|
biomolecules
|
|
biopathology
|
|
biophysical
|
|
biophysically
|
|
biophysics
|
|
bioplar
|
|
biopolymer
|
|
bioprinted
|
|
bioprinting
|
|
bioprosthetic
|
|
biopsied
|
|
biopsies
|
|
biopsy
|
|
biopsyproven
|
|
bioptates
|
|
biopterin
|
A pterin derivative that consists of pterin bearing amino, oxo and 1,2-dihydroxypropyl substituents at positions 2, 4 and 6 respectively. The parent of the class of biopterins.
|
bioreactor
|
|
bioreactors
|
|
biorientation
|
|
bioriented
|
|
biosensing
|
|
biosensor
|
|
biosynthesis
|
The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones.
|
biosynthesized
|
|
biosynthesizing
|
|
biosynthetic
|
|
biotarget
|
|
biotherapy
|
|
biotin
|
An organic heterobicyclic compound that consists of 2-oxohexahydro-1H-thieno[3,4-d]imidazole having a valeric acid substituent attached to the tetrahydrothiophene ring. The parent of the class of biotins.
|
biotinylated
|
|
biotinylation
|
|
biotransformation
|
|
bip
|
|
biparental
|
|
bipartite
|
|
bipcholera
|
|
bipdependent
|
|
bipgrp78
|
|
biphasic
|
|
biphenotypic
|
|
biphenyl
|
|
biphenyls
|
|
biphosphate
|
|
bipolar
|
|
bipolari
|
|
bipolarii
|
|
bipolarity
|
|
bipolarize
|
|
bipotent
|
|
bipotential
|
|
bips
|
|
bir
|
|
bir2
|
|
bir2selective
|
|
bir3
|
|
bira
|
|
birbeck
|
|
birc1
|
|
birc2
|
baculoviral IAP repeat containing 2|The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. This encoded protein inhibits apoptosis induced by serum deprivation and menadione, a potent inducer of free radicals. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
|
birc2map3k14
|
|
birc3
|
baculoviral IAP repeat containing 3|This gene encodes a member of the IAP family of proteins that inhibit apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. The encoded protein inhibits apoptosis induced by serum deprivation but does not affect apoptosis resulting from exposure to menadione, a potent inducer of free radicals. It contains 3 baculovirus IAP repeats and a ring finger domain. Transcript variants encoding the same isoform have been identified. [provided by RefSeq, Aug 2011]
|
birc4
|
|
birc5
|
baculoviral IAP repeat containing 5|This gene is a member of the inhibitor of apoptosis (IAP) gene family, which encode negative regulatory proteins that prevent apoptotic cell death. IAP family members usually contain multiple baculovirus IAP repeat (BIR) domains, but this gene encodes proteins with only a single BIR domain. The encoded proteins also lack a C-terminus RING finger domain. Gene expression is high during fetal development and in most tumors, yet low in adult tissues. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
|
birc531cc
|
|
birc7
|
baculoviral IAP repeat containing 7|This gene encodes a member of the inhibitor of apoptosis protein (IAP) family, and contains a single copy of a baculovirus IAP repeat (BIR) as well as a RING-type zinc finger domain. The BIR domain is essential for inhibitory activity and interacts with caspases, while the RING finger domain sometimes enhances antiapoptotic activity but does not inhibit apoptosis alone. Elevated levels of the encoded protein may be associated with cancer progression and play a role in chemotherapy sensitivity. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jul 2013]
|
birch
|
|
birds
|
|
birdshot
|
|
birinapantinduced
|
|
birth
|
|
birthoggdube
|
|
births
|
|
birthweight
|
The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms.
|
bis
|
|
bisans
|
|
bisecting
|
|
bishydroxamic
|
|
bisindolylmaleimide
|
|
bisoform
|
|
bisoprolol
|
A secondary amine that has formula C18H31NO4.
|
bispecific
|
|
bisphenol
|
|
bisphenola
|
|
bisphosphate
|
|
bisphosphonate
|
|
bisphosphonateassociated
|
|
bisphosphonaterelated
|
|
bisphosphonates
|
|
bisphosphorylated
|
|
bistable
|
|
bisubstrate
|
|
bisulfite
|
|
bisulfitemodified
|
|
bit1
|
|
bitargeted
|
|
bitc
|
|
bite
|
|
bitopic
|
|
bitransgenic
|
|
bitter
|
|
bitterness
|
|
bittertaste
|
|
bitumenexposed
|
|
biu87
|
|
biv
|
|
bivalent
|
|
bivalirudin
|
|
bivariate
|
|
biventricular
|
|
biweekly
|
|
bizarre
|
|
bjab
|
The malignant human B-cell-line BJAB is a EBV-negative Burkitt-like lymphoma cell line.
|
bjhcc20a
|
|
bkb2
|
|
bkb2r
|
|
bkbeta1
|
|
bkca
|
|
bkcachannel
|
|
bki
|
|
bknobs
|
|
bkpyv
|
|
bkv
|
|
bl21
|
|
bl41e95a
|
|
bla
|
|
blach
|
|
black
|
A term used in the United States to categorize a population group comprised of persons having origins in any of the black racial groups of Africa. Includes population subgroups (e.g., Kenyan, Nigerian, Haitian). The concept refers also to individuals who classify themselves as described.
|
blackfan
|
|
blackfoot
|
|
blacks
|
|
bladder
|
A membranous sac in animals that serves as the receptacle of a liquid or contains gas.
|
bladders
|
|
bladderspecific
|
|
blade
|
|
blades
|
|
bland
|
|
blap75
|
|
blap75rmi1
|
|
blast
|
|
blastema
|
A group of cells that give rise to a new individual, in asexual reproduction, or to an organ or part, in either normal development or in regeneration.
|
blastemal
|
|
blastic
|
|
blastocyst
|
The modified blastula of a placental mammal.
|
blastocystendometrial
|
|
blastocystis
|
|
blastocysts
|
|
blastoid
|
|
blastoma
|
A malignant neoplasm composed of undifferentiated cells.
|
blastphase
|
|
blasts
|
|
blau
|
|
blbc
|
|
blbcs
|
|
blbp
|
|
blca4
|
|
blccxcl13
|
|
bleaching
|
|
bleb
|
A cell extension characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusions.
|
blebbing
|
|
blebbistatin
|
A pyrroloquinoline that is 1,2,3,3a-tetrahydro-H-pyrrolo[2,3-b]quinolin-4-one substituted by a hydroxy group at position 3a, a methyl group at position 6 and a phenyl group at position 1. It acts as an inhibitor of ATPase activity of non-muscle myosin II.
|
blebs
|
|
bleeding
|
|
bleedings
|
|
bleomycin
|
A glycopeptide antibiotic produced by the bacterium Streptomyces verticillus. The term, 'bleomycin' refers to a family of structurally related compounds. When used as an anti-cancer agent, the chemotherapeutical forms are primarily bleomycin A2 and B2.
|
bleomycina5
|
|
bleomycininduced
|
|
bleomycintreated
|
|
blepharophimosis
|
|
blepharospasm
|
A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks.
|
blessed
|
|
blh
|
|
blhx
|
|
blid
|
BH3-like motif containing, cell death inducer|This gene encodes a BH3-like motif containing protein involved in cell death. The encoded protein may induce apoptosis in a caspase-dependent manner. The protein is localized in both the cytoplasm and the mitochondrion. [provided by RefSeq, Aug 2011]
|
blike
|
|
blimp1
|
|
blind
|
|
blindness
|
|
blineage
|
|
blinkin
|
|
blipoprotein
|
|
blister
|
|
blistering
|
|
blk
|
BLK proto-oncogene, Src family tyrosine kinase|This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010]
|
blm
|
Bloom syndrome, RecQ helicase-like|The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008]
|
blmassociated
|
|
blmdeficient
|
|
blmp53rad51
|
|
blmtop3armi1
|
|
blmtopo
|
|
blnc1
|
|
blnk
|
B-cell linker|This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]
|
bloc
|
|
bloc1
|
|
bloc1s1
|
biogenesis of lysosomal organelles complex-1, subunit 1|BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008]
|
bloc1s2
|
biogenesis of lysosomal organelles complex-1, subunit 2|This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
|
bloc2
|
|
bloc3
|
|
bloc4
|
|
block
|
A block or batch is an experimental unit arrangement into a group which is similar to one another. Typically, a blocking factor is a source of variability that is not of primary interest to the experimenter. An example of a blocking factor might be the sex of a patient; by blocking on sex, this source of variability is controlled for, thus leading to greater accuracy.
|
block1
|
|
block70
|
|
blockade
|
|
blockadeinduced
|
|
blockades
|
|
blockage
|
|
blocked
|
|
blocker
|
|
blockers
|
|
blocking
|
|
blocks
|
|
blod
|
|
blok
|
|
blom7alpha
|
|
blond
|
|
blood
|
1: The fluid that circulates in the heart, arteries, capillaries, and veins of a vertebrate animal carrying nourishment and oxygen to and bringing away waste products from all parts of the body. 2: A comparable fluid of an invertebrate.
|
bloodbased
|
|
bloodborne
|
|
bloodbrain
|
|
bloodbrainbarrier
|
|
bloodcerebrospinal
|
|
bloodcsf
|
|
bloodderived
|
|
bloodgroup
|
|
bloodlymphatic
|
|
bloodnerve
|
|
bloodpromoting
|
|
bloodretinal
|
|
bloods
|
|
bloodstage
|
|
bloodstasis
|
|
bloodstream
|
|
bloodtestis
|
|
bloodtobrain
|
|
bloodtumor
|
|
bloodvessel
|
|
bloom
|
|
blooms
|
|
bloop
|
|
blos1
|
|
blot
|
|
blots
|
|
blotting
|
|
blp
|
|
blp2
|
|
blt
|
|
blt1
|
|
blt1giopi3kerk
|
|
blt1receptor
|
|
blt2
|
|
blt2mediated
|
|
blt2nox1reactive
|
|
blt4
|
|
blu
|
|
blue
|
|
bluetongue
|
|
blunt
|
|
blunted
|
|
blunting
|
|
blunts
|
|
blymphoblast
|
|
blymphoblastic
|
|
blymphocyte
|
|
blymphocytes
|
|
blymphoid
|
|
blymphoma
|
|
blys
|
|
blysapril
|
|
blysexpression
|
|
blzip
|
|
bm2
|
|
bmal1
|
|
bmal1brain
|
|
bmal1clock
|
|
bmal2
|
|
bmal2clock
|
|
bmammalian
|
|
bmanf1
|
|
bmax
|
|
bmbc
|
|
bmc
|
|
bmca
|
|
bmcc1
|
|
bmd
|
The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS.
|
bmdcs
|
|
bmderived
|
|
bme
|
|
bmec
|
|
bmecs
|
|
bmediated
|
|
bmes
|
|
bmf
|
Bcl2 modifying factor|The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein contains a single BCL2 homology domain 3 (BH3), and has been shown to bind BCL2 proteins and function as an apoptotic activator. This protein is found to be sequestered to myosin V motors by its association with dynein light chain 2, which may be important for sensing intracellular damage and triggering apoptosis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
bmfs
|
|
bmi
|
An indicator of body density as determined by the relationship of BODY WEIGHT to BODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)
|
bmi1
|
BMI1 proto-oncogene, polycomb ring finger|
|
bmi1aurka
|
|
bmi1containing
|
|
bmi1mediated
|
|
bmi1mel18
|
|
bmi1overexpressing
|
|
bmi1positive
|
|
bmi1ring1b
|
|
bmi1silenced
|
|
bmi1targeted
|
|
bmimatched
|
|
bmis
|
|
bmk1
|
|
bmlv
|
|
bmmc
|
|
bmmcs
|
|
bmmsc
|
|
bmmscs
|
|
bmnc
|
|
bmnsclc
|
|
bmoc
|
|
bmov
|
|
bmp
|
|
bmp1
|
bone morphogenetic protein 1|This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth factors. This gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region. [provided by RefSeq, Aug 2008]
|
bmp10
|
bone morphogenetic protein 10|The protein encoded by this gene is a member of the TGF-beta family of growth factors. Data suggest that the similar protein in mouse plays an important role in trabeculation of the embryonic heart. In human, this protein may signal through receptor serine/threonine kinases. [provided by RefSeq, Jul 2008]
|
bmp11
|
|
bmp13
|
|
bmp14
|
|
bmp15
|
bone morphogenetic protein 15|The protein encoded by this gene is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The transforming growth factor-beta superfamily includes large families of growth and differentiation factors. It is thought that this protein may be involved in oocyte maturation and follicular development as a homodimer or by forming heterodimers with a related protein, Gdf9. Defects in this gene are the cause of ovarian dysgenesis 2.[provided by RefSeq, Sep 2009]
|
bmp1like
|
|
bmp2
|
bone morphogenetic protein 2|The protein encoded by this gene belongs to the transforming growth factor-beta (TGFB) superfamily. The encoded protein acts as a disulfide-linked homodimer and induces bone and cartilage formation. [provided by RefSeq, Jul 2008]
|
bmp24
|
|
bmp26
|
|
bmp27
|
|
bmp2cbfalpha1
|
|
bmp2induced
|
|
bmp2k
|
BMP2 inducible kinase|This gene is the human homolog of mouse BMP-2-inducible kinase. Bone morphogenic proteins (BMPs) play a key role in skeletal development and patterning. Expression of the mouse gene is increased during BMP-2 induced differentiation and the gene product is a putative serine/threonine protein kinase containing a nuclear localization signal. Therefore, the protein encoded by this human homolog is thought to be a protein kinase with a putative regulatory role in attenuating the program of osteoblast differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
bmp2mediated
|
|
bmp2ppargammaapoe
|
|
bmp2smad15
|
|
bmp2smad6smad7
|
|
bmp3
|
bone morphogenetic protein 3|BMP3 belongs to the transforming growth factor-beta (TGFB) superfamily. Bone morphogenic protein, also known as osteogenin, induces bone formation. [provided by RefSeq, Jul 2008]
|
bmp3b
|
|
bmp4
|
bone morphogenetic protein 4|The protein encoded by this gene is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The superfamily includes large families of growth and differentiation factors. Bone morphogenetic proteins were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. This particular family member plays an important role in the onset of endochondral bone formation in humans, and a reduction in expression has been associated with a variety of bone diseases, including the heritable disorder Fibrodysplasia Ossificans Progressiva. Alternative splicing in the 5' untranslated region of this gene has been described and three variants are described, all encoding an identical protein. [provided by RefSeq, Jul 2008]
|
bmp4bmp7
|
|
bmp4elicited
|
|
bmp4induced
|
|
bmp4mediated
|
|
bmp4mir302bmprii
|
|
bmp4thrombospondin1
|
|
bmp4which
|
|
bmp4wnt3a
|
|
bmp5
|
bone morphogenetic protein 5|This gene encodes a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The superfamily includes large families of growth and differentiation factors. Bone morphogenetic proteins were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. These proteins are synthesized as prepropeptides, cleaved, and then processed into dimeric proteins. This protein may act as an important signaling molecule within the trabecular meshwork and optic nerve head, and may play a potential role in glaucoma pathogenesis. This gene is differentially regulated during the formation of various tumors. [provided by RefSeq, Jul 2008]
|
bmp6
|
bone morphogenetic protein 6|The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed role in early development. In addition, the fact that this BMP is closely related to BMP5 and BMP7 has lead to speculation of possible bone inductive activity. [provided by RefSeq, Jul 2008]
|
bmp67
|
|
bmp6ho1
|
|
bmp6mediated
|
|
bmp7
|
bone morphogenetic protein 7|The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed role in early development and possible bone inductive activity. [provided by RefSeq, Jul 2008]
|
bmp7induced
|
|
bmp9
|
|
bmp9alk1
|
|
bmp9induced
|
|
bmpa
|
|
bmpbone
|
|
bmpdpp
|
|
bmper
|
BMP binding endothelial regulator|This gene encodes a secreted protein that interacts with, and inhibits bone morphogenetic protein (BMP) function. It has been shown to inhibit BMP2- and BMP4-dependent osteoblast differentiation and BMP-dependent differentiation of the chondrogenic cells. Mutations in this gene are associated with a lethal skeletal disorder, diaphanospondylodysostosis. [provided by RefSeq, Dec 2011]
|
bmpinduced
|
|
bmpmediated
|
|
bmpnfkb
|
|
bmpr
|
|
bmpr1a
|
bone morphogenetic protein receptor, type IA|The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. [provided by RefSeq, Jul 2008]
|
bmpr1amediated
|
|
bmpr1b
|
bone morphogenetic protein receptor, type IB|This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
|
bmpr2
|
bone morphogenetic protein receptor, type II (serine/threonine kinase)|This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, Jul 2008]
|
bmpr2mediated
|
|
bmpreceptor
|
|
bmpregulated
|
|
bmpresponsive
|
|
bmpria
|
|
bmprib
|
|
bmpribdependent
|
|
bmprii
|
|
bmprs
|
|
bmprspecific
|
|
bmps
|
|
bmpsignaling
|
|
bmpsmad
|
|
bmpsmad4
|
|
bmpspecific
|
|
bms
|
|
bms754807
|
|
bmsc
|
|
bmscderived
|
|
bmscs
|
|
bmt
|
|
bmx
|
BMX non-receptor tyrosine kinase|This gene encodes a non-receptor tyrosine kinase belonging to the Tec kinase family. The protein contains a PH-like domain, which mediates membrane targeting by binding to phosphatidylinositol 3,4,5-triphosphate (PIP3), and a SH2 domain that binds to tyrosine-phosphorylated proteins and functions in signal transduction. The protein is implicated in several signal transduction pathways including the Stat pathway, and regulates differentiation and tumorigenicity of several types of cancer cells. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Sep 2009]
|
bmyb
|
|
bmzf2
|
|
bmzf3
|
|
bn1
|
|
bn2
|
|
bnc2
|
basonuclin 2|
|
bnf
|
|
bnhej
|
|
bnhl
|
|
bnip
|
|
bnip1
|
BCL2/adenovirus E1B 19kDa interacting protein 1|This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. In addition, this protein is involved in vesicle transport into the endoplasmic reticulum. Alternative splicing of this gene results in four protein products with identical N- and C-termini. [provided by RefSeq, Mar 2011]
|
bnip2
|
BCL2/adenovirus E1B 19kDa interacting protein 2|This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. [provided by RefSeq, Mar 2011]
|
bnip3
|
BCL2/adenovirus E1B 19kDa interacting protein 3|This gene is encodes a mitochondrial protein that contains a BH3 domain and acts as a pro-apoptotic factor. The encoded protein interacts with anti-apoptotic proteins, including the E1B 19 kDa protein and Bcl2. This gene is silenced in tumors by DNA methylation. [provided by RefSeq, Dec 2014]
|
bnip3induced
|
|
bnip3l
|
BCL2/adenovirus E1B 19kDa interacting protein 3-like|This gene encodes a protein that belongs to the pro-apoptotic subfamily within the Bcl-2 family of proteins. The encoded protein binds to Bcl-2 and possesses the BH3 domain. The protein directly targets mitochondria and causes apoptotic changes, including loss of membrane potential and the release of cytochrome c. [provided by RefSeq, Feb 2015]
|
bnip3lnix
|
|
bnipl2
|
|
bnipxl
|
|
bnonhodgkin
|
|
bnp
|
|
bnpincreased
|
|
bnrf1
|
|
boat
|
|
boat1
|
|
bob1
|
|
boc
|
BOC cell adhesion associated, oncogene regulated|The protein encoded by this gene is a member of the immunoglobulin/fibronectin type III repeat family. It is a component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells, and promotes myogenic differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]
|
bocavirus
|
|
bod1
|
biorientation of chromosomes in cell division 1|
|
bodies
|
|
bodiesreview
|
|
bodily
|
|
body
|
|
bodylike
|
|
bodys
|
|
bodyweight
|
The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms.
|
bohr
|
|
bok
|
BCL2-related ovarian killer|The protein encoded by this gene belongs to the BCL2 family, members of which form homo- or heterodimers, and act as anti- or proapoptotic regulators that are involved in a wide variety of cellular processes. Studies in rat show that this protein has restricted expression in reproductive tissues, interacts strongly with some antiapoptotic BCL2 proteins, not at all with proapoptotic BCL2 proteins, and induces apoptosis in transfected cells. Thus, this protein represents a proapoptotic member of the BCL2 family. [provided by RefSeq, Sep 2011]
|
bokmcl1
|
|
bola
|
|
bola3
|
bolA family member 3|This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011]
|
bolalike
|
|
bold
|
|
boldineinduced
|
|
boll
|
boule-like RNA-binding protein|This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
bolster
|
|
bolstering
|
|
bolus
|
|
bomb
|
|
bomb2
|
|
bombesin
|
|
bombesindependent
|
|
bombesininduced
|
|
bon
|
|
bon1
|
|
bona
|
|
bonafide
|
|
bond
|
|
bonding
|
|
bonds
|
|
bone
|
The hard form of connective tissue that constitutes the majority of the skeleton of most vertebrates; it consists of an organic component (the cells and matrix) and an inorganic, or mineral, component; the matrix contains a framework of collagenous fibers and is impregnated with the mineral component, chiefly calcium phosphate (85 per cent) and calcium carbonate (10 per cent), which imparts the quality of rigidity to bone.
|
boneassociated
|
|
bonecartilage
|
|
bonederived
|
|
boneenhancer
|
|
boneerosive
|
|
boneforming
|
|
bonelung
|
|
bonemarrow
|
|
bonemarrowderived
|
|
bonemetastatic
|
|
bonemineral
|
|
bonemorphogenetic
|
|
boneosteolysis
|
|
boneprotective
|
|
boneregeneration
|
The regrowth of bone following its loss or destruction.
|
bonerelated
|
|
boneresorbing
|
|
bones
|
The hard form of connective tissue that constitutes the majority of the skeleton of most vertebrates; it consists of an organic component (the cells and matrix) and an inorganic, or mineral, component; the matrix contains a framework of collagenous fibers and is impregnated with the mineral component, chiefly calcium phosphate (85 per cent) and calcium carbonate (10 per cent), which imparts the quality of rigidity to bone.
|
boneseeking
|
|
bonesparing
|
|
bonespecific
|
|
bonetooth
|
|
bonferroni
|
|
bonferronicorrected
|
|
bonferronis
|
|
bonta
|
|
bontb
|
|
bony
|
|
bookmarking
|
|
bookmarks
|
|
boost
|
|
boosted
|
|
booster
|
|
boosting
|
|
boosts
|
|
bop1
|
block of proliferation 1|
|
bor
|
|
bora
|
bora, aurora kinase A activator|BORA is an activator of the protein kinase Aurora A (AURKA; MIM 603072), which is required for centrosome maturation, spindle assembly, and asymmetric protein localization during mitosis (Hutterer et al., 2006 [PubMed 16890155]).[supplied by OMIM, Mar 2008]
|
borate
|
|
borbera
|
|
border
|
|
borderassociated
|
|
bordering
|
|
borderline
|
|
borders
|
|
bordetella
|
|
bore
|
|
borealin
|
|
borealinhp1
|
|
boredom
|
|
boris
|
|
borisctcf
|
|
born
|
|
borna
|
|
borne
|
|
boron
|
|
boronic
|
|
borrelia
|
|
borrelial
|
|
borreliosis
|
|
borrmann
|
|
bortezomib
|
|
bortezomibinduced
|
|
bortezomibinducing
|
|
bortezomibrituximab
|
|
bos
|
|
bosentan
|
|
bosnia
|
|
boston
|
|
bosutinib
|
|
boswellic
|
|
bothnia
|
|
botrocetinmediated
|
|
bottleneck
|
|
bottom
|
|
bottomup
|
|
botulinum
|
|
boulardii
|
|
boule
|
|
bound
|
|
boundaries
|
|
boundary
|
|
bouquetlike
|
|
bout
|
|
bouton
|
Terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters. The axon terminus is considered to be the whole region of thickening and the terminal bouton is a specialized region of it.
|
bouts
|
|
bovine
|
|
bovis
|
|
bovismediated
|
|
bowel
|
|
bowenoid
|
|
bowens
|
|
bowl
|
|
bowman
|
|
bowmans
|
|
box
|
|
box1
|
|
box2
|
|
boxassociated
|
|
boxbinding
|
|
boxdependent
|
|
boxes
|
|
boxindependent
|
|
boxless
|
|
boxskp2
|
|
boxv
|
|
boy
|
|
boyd
|
|
boyden
|
|
boys
|
|
bozf1
|
|
bp1
|
Blood pressure QTL 1|
|
bp180
|
|
bp230
|
|
bp90k
|
|
bpa
|
|
bpad
|
|
bpag1
|
|
bpag1b
|
|
bpag1e
|
|
bpd
|
|
bpde
|
|
bpdedna
|
|
bpdeinduced
|
|
bpdeleted
|
|
bpdi
|
|
bperforin
|
|
bpes
|
|
bpgap1
|
|
bph
|
A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow.|A disease caused by hyperplastic process of non-transformed prostatic cells.|Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both.
|
bph1
|
|
bphosphorylated
|
|
bpi
|
bactericidal/permeability-increasing protein|This gene encodes a lipopolysaccharide binding protein. It is associated with human neutrophil granules and has antimicrobial activity against gram-negative organisms. [provided by RefSeq, Nov 2014]
|
bpia645g
|
|
bpiexpression
|
|
bpii
|
|
bplf1
|
|
bpn
|
|
bpositive
|
|
bpoz2
|
|
bpq
|
|
bprecursor
|
|
bprisk
|
|
bprogenitor
|
|
bprolymphocytic
|
|
bps
|
|
bptes
|
|
bpv1
|
|
bpy2
|
|
bpy22bpy23
|
|
bqrelated
|
|
bqtc
|
|
br3
|
|
bra
|
|
braak
|
|
brachial
|
|
brachialankle
|
|
brachydactyly
|
A bone development disease characterized by short fingers and toes.
|
brachyolmia
|
An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.
|
brachytherapy
|
|
brachyury
|
|
bradycardia
|
A slower than normal heart rate (in adults, slower than 60 beats per minute).
|
bradykinin
|
A linear nonapeptide messenger belonging to the kinin group of proteins, with amino acid sequence RPPGFSPFR. Enzymatically produced from kallidin in the blood, it is a powerful vasodilator that causes smooth muscle contraction, and may mediate inflammation.
|
bradykinin2receptor
|
|
bradykinininduced
|
|
bradykininmediated
|
|
bradyopsia
|
|
braf
|
B-Raf proto-oncogene, serine/threonine kinase|This gene encodes a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene are associated with cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance. Mutations in this gene have also been associated with various cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. A pseudogene, which is located on chromosome X, has been identified for this gene. [provided by RefSeq, Jul 2008]
|
braf35
|
|
brafcraf
|
|
brafdependent
|
|
brafdirected
|
|
brafdriven
|
|
braferk
|
|
brafibased
|
|
brafinduced
|
|
brafinitiated
|
|
brafkiaa1549
|
|
brafkras
|
|
brafmapk
|
|
brafmediated
|
|
brafmek
|
|
brafmekerk
|
|
brafmkkerk
|
|
brafmutant
|
|
brafmutated
|
|
brafnras
|
|
brafpositive
|
|
brafpv600e
|
|
brafv599e
|
|
brafv600
|
|
brafv600e
|
|
brafv600econtaining
|
|
brafv600edriven
|
|
brafv600einduced
|
|
brafv600ek
|
|
brafv600emediated
|
|
brafve
|
|
brafwterk
|
|
brag2
|
|
brahma
|
|
brahmarelated
|
|
brahmaswi2related
|
|
brain
|
1: The portion of the vertebrate central nervous system that constitutes the organ of thought and neural coordination, includes all the higher nervous centers receiving stimuli from the sense organs and interpreting and correlating them to formulate the motor impulses, is made up of neurons and supporting and nutritive structures, is enclosed within the skull, and is continuous with the spinal cord through the foramen magnum. Also named encephalon. 2: A nervous center in invertebrates comparable in position and function to the vertebrate brain.
|
brainbehavior
|
|
brainblood
|
|
brainderived
|
|
brainenriched
|
|
brainexpressed
|
|
braininfiltrating
|
|
brainmental
|
|
brainneuron
|
|
brainparenchymal
|
|
brainplasma
|
|
brainregion
|
|
brainreview
|
|
brains
|
|
brainseeking
|
|
brainspecific
|
|
brainstem
|
|
brainstemcerebellum
|
|
brainstems
|
|
braintype
|
|
brak
|
|
brakcxcl14
|
|
brake
|
|
brakes
|
|
branch
|
A natural subdivision of a plant stem; especially: a secondary shoot or stem (as a bough) arising from a main axis (as of a tree).
|
branched
|
|
branchedchain
|
|
branches
|
|
branchial
|
|
branching
|
|
branchiooto
|
|
branchiootorenal
|
|
branchmigration
|
|
branchpoint
|
|
brap
|
BRCA1 associated protein|The protein encoded by this gene was identified by its ability to bind to the nuclear localization signal of BRCA1 and other proteins. It is a cytoplasmic protein which may regulate nuclear targeting by retaining proteins with a nuclear localization signal in the cytoplasm. [provided by RefSeq, Jul 2008]
|
brap2
|
|
brasiliensis
|
|
brat
|
|
brat1
|
BRCA1-associated ATM activator 1|The protein encoded by this ubiquitously expressed gene interacts with the tumor suppressing BRCA1 (breast cancer 1) protein and and the ATM (ataxia telangiectasia mutated) protein. ATM is thought to be a master controller of cell cycle checkpoint signalling pathways that are required for cellular responses to DNA damage such as double-strand breaks that are induced by ionizing radiation and complexes with BRCA1 in the multi-protein complex BASC (BRAC1-associated genome surveillance complex). The protein encoded by this gene is thought to play a role in the DNA damage pathway regulated by BRCA1 and ATM. [provided by RefSeq, Mar 2012]
|
bratmediated
|
|
brazil
|
|
brazilian
|
|
brazilians
|
|
braziliensis
|
|
brazzein
|
|
brb
|
|
brc
|
|
brc4
|
|
brca
|
|
brca1
|
breast cancer 1, early onset|This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009]
|
brca11a1b
|
|
brca12
|
|
brca12deficient
|
|
brca12mutated
|
|
brca12negative
|
|
brca153bp1depleted
|
|
brca1a
|
|
brca1associated
|
|
brca1bach1
|
|
brca1bard1
|
|
brca1brca2
|
|
brca1brct
|
|
brca1c4868cgpala1623gly
|
|
brca1chk1p53
|
|
brca1complex
|
|
brca1ctipmediated
|
|
brca1defective
|
|
brca1deficiency
|
|
brca1deficient
|
|
brca1deltadelta
|
|
brca1deltanp63
|
|
brca1dependent
|
|
brca1gata3
|
|
brca1independent
|
|
brca1induced
|
|
brca1interacting
|
|
brca1iris
|
|
brca1ku80
|
|
brca1like
|
|
brca1mediated
|
|
brca1mutant
|
|
brca1mutated
|
|
brca1mutation
|
|
brca1negative
|
|
brca1p50
|
|
brca1p53
|
|
brca1partner
|
|
brca1positive
|
|
brca1proficient
|
|
brca1rap80
|
|
brca1related
|
|
brca1s
|
|
brca2
|
breast cancer 2, early onset|Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, Dec 2008]
|
brca2associated
|
|
brca2c7988atpglu2663val
|
|
brca2deficient
|
|
brca2expressing
|
|
brca2focus
|
|
brca2interacting
|
|
brca2linked
|
|
brca2mediated
|
|
brca2mutated
|
|
brca2plectin
|
|
brca2rad51
|
|
brca2rad51dependent
|
|
brca2related
|
|
brca2stimulated
|
|
brca3
|
|
brcaassociated
|
|
brcafmr1
|
|
brcamutated
|
|
brcamutation
|
|
brcaness
|
|
brcapositive
|
|
brcapro
|
|
brcaproficient
|
|
brcarelated
|
|
brcax
|
|
brcc
|
|
brcc36
|
|
brcc36containing
|
|
brct
|
|
brct1
|
|
brct2
|
|
brct6
|
|
brctx
|
|
brd2
|
bromodomain containing 2|This gene encodes a transcriptional regulator that belongs to the BET (bromodomains and extra terminal domain) family of proteins. This protein associates with transcription complexes and with acetylated chromatin during mitosis, and it selectively binds to the acetylated lysine-12 residue of histone H4 via its two bromodomains. The gene maps to the major histocompatability complex (MHC) class II region on chromosome 6p21.3, but sequence comparison suggests that the protein is not involved in the immune response. This gene has been implicated in juvenile myoclonic epilepsy, a common form of epilepsy that becomes apparent in adolescence. Multiple alternatively spliced variants have been described for this gene. [provided by RefSeq, Dec 2010]
|
brd24mediated
|
|
brd3
|
bromodomain containing 3|This gene was identified based on its homology to the gene encoding the RING3 protein, a serine/threonine kinase. The gene localizes to 9q34, a region which contains several major histocompatibility complex (MHC) genes. The function of the encoded protein is not known. [provided by RefSeq, Jul 2008]
|
brd4
|
bromodomain containing 4|The protein encoded by this gene is homologous to the murine protein MCAP, which associates with chromosomes during mitosis, and to the human RING3 protein, a serine/threonine kinase. Each of these proteins contains two bromodomains, a conserved sequence motif which may be involved in chromatin targeting. This gene has been implicated as the chromosome 19 target of translocation t(15;19)(q13;p13.1), which defines an upper respiratory tract carcinoma in young people. Two alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
|
brd4driven
|
|
brd4nut
|
|
brd4ptefb
|
|
brd7
|
bromodomain containing 7|This gene encodes a protein which is a member of the bromodomain-containing protein family. The product of this gene has been identified as a component of one form of the SWI/SNF chromatin remodeling complex, and as a protein which interacts with p53 and is required for p53-dependent oncogene-induced senescence which prevents tumor growth. Pseudogenes have been described on chromosomes 2, 3, 6, 13 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
|
brd7mediated
|
|
brd8
|
bromodomain containing 8|The protein encoded by this gene interacts with thyroid hormone receptor in a ligand-dependent manner and enhances thyroid hormone-dependent activation from thyroid response elements. This protein contains a bromodomain and is thought to be a nuclear receptor coactivator. Multiple alternatively spliced transcript variants that encode distinct isoforms have been identified. [provided by RefSeq, Jul 2014]
|
brdim
|
|
brdnut
|
|
brdt
|
bromodomain, testis-specific|BRDT is similar to the RING3 protein family. It possesses 2 bromodomain motifs and a PEST sequence (a cluster of proline, glutamic acid, serine, and threonine residues), characteristic of proteins that undergo rapid intracellular degradation. The bromodomain is found in proteins that regulate transcription. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
|
brdu
|
|
brduinduced
|
|
bre
|
brain and reproductive organ-expressed (TNFRSF1A modulator)|
|
bre1
|
|
bre1ab
|
|
bre1abdeficient
|
|
breach
|
|
breaching
|
|
bread
|
|
breadth
|
|
break
|
|
breakage
|
|
breakapart
|
|
breakdown
|
The chemical reactions and pathways resulting in the breakdown of substances, including the breakdown of carbon compounds with the liberation of energy for use by the cell or organism.
|
breakdownbetacatenin
|
|
breakdsb
|
|
breaker
|
|
breakfast
|
|
breakinduced
|
|
breaking
|
|
breakpoint
|
|
breakpoints
|
|
breaks
|
|
breakthrough
|
|
brease
|
|
breasst
|
|
breast
|
The fore or ventral part of the body between the neck and the abdomen.
|
breastcancer
|
Tumors or cancer of the human BREAST.|A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.|A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.|A carcinoma that derives_from breast tissue.|Cancer of the human MAMMARY GLAND.|Tumor or cancer of the human MAMMARY GLAND.|A carcinoma that originates from breast tissue.
|
breastcancerspecific
|
|
breastconserving
|
|
breastfed
|
|
breastfeeding
|
|
breastmilk
|
|
breastovarian
|
|
breastovary
|
|
breastpancreas
|
|
breastprostate
|
|
breasts
|
|
breat
|
|
breath
|
|
breathing
|
The process of gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms.
|
brec
|
|
breech
|
|
breeding
|
|
brefeldin
|
|
breg
|
|
bregulated
|
|
brek
|
|
brel
|
|
brelated
|
|
brenner
|
|
brepressing
|
|
breslow
|
|
breslows
|
|
bresol
|
|
brest
|
|
bret2
|
|
breve
|
|
brevican
|
|
brf
|
|
brf1
|
BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit|This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The gene product belongs to the TF2B family. Several alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. [provided by RefSeq, Jun 2011]
|
brf2
|
BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit|This gene encodes one of the multiple subunits of the RNA polymerase III transcription factor complex required for transcription of genes with promoter elements upstream of the initiation site. The product of this gene, a TFIIB-like factor, is directly recruited to the TATA-box of polymerase III small nuclear RNA gene promoters through its interaction with the TATA-binding protein. [provided by RefSeq, Jul 2008]
|
brfs
|
|
brg1
|
|
brg1based
|
|
brg1brm
|
|
brg1containing
|
|
brg1dependent
|
|
brg1mediated
|
|
brg1swisnf
|
|
bri2
|
|
bri2bace1
|
|
bri2itm2b
|
|
bri3
|
brain protein I3|
|
brib
|
|
brichos
|
|
bridge
|
|
bridged
|
|
bridges
|
|
bridging
|
|
brief
|
|
briefly
|
|
bright
|
|
brightness
|
|
brights
|
|
bring
|
|
bringing
|
|
brings
|
|
brip1
|
BRCA1 interacting protein C-terminal helicase 1|The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008]
|
brip1fancj
|
|
brisk
|
|
brit1
|
|
britain
|
|
brite
|
|
british
|
|
brittle
|
|
brivanib
|
|
brk
|
|
brk1
|
BRICK1, SCAR/WAVE actin-nucleating complex subunit|
|
brkelicited
|
|
brkinduced
|
|
brkmediated
|
|
brkproteintyrosine
|
|
brkptk6
|
|
brkptk6sik
|
|
brkstap2mediated
|
|
brlf1
|
|
brm
|
|
brms1
|
breast cancer metastasis suppressor 1|This gene reduces the metastatic potential, but not the tumorogenicity, of human breast cancer and melanoma cell lines. The protein encoded by this gene localizes primarily to the nucleus and is a component of the mSin3a family of histone deacetylase complexes (HDAC). The protein contains two coiled-coil motifs and several imperfect leucine zipper motifs. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
brms1arid4a
|
|
brms1dependent
|
|
brms1induced
|
|
brms1mediated
|
|
brmtype
|
|
brn2
|
|
brn2mitf
|
|
brn3a
|
|
brn5
|
|
bro1
|
|
broad
|
|
broadband
|
|
broaden
|
|
broadened
|
|
broadening
|
|
broadens
|
|
broader
|
|
broadest
|
|
broadly
|
|
broadrange
|
|
broadspectrum
|
|
broccoli
|
|
broccoliderived
|
|
brodmanns
|
|
broken
|
|
bromelain
|
|
bromelaintreated
|
|
bromide
|
A monoatomic bromine that has formula Br.
|
bromine
|
|
bromo
|
|
bromoacetyl
|
|
bromocriptine
|
An indole alkaloid that has formula C32H40BrN5O5.
|
bromodeoxyuridine
|
|
bromodomain
|
|
bromodomaincontaining
|
|
bromodomainphd
|
|
bromodomains
|
|
bronchi
|
|
bronchial
|
|
bronchiale
|
|
bronchiectasis
|
A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances.
|
bronchioalveolar
|
|
bronchiolalveolar
|
|
bronchiolar
|
|
bronchiolitis
|
A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen.
|
bronchiolitisassociated
|
|
bronchioloalveolar
|
|
bronchitis
|
A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness.
|
bronchoalveolar
|
|
bronchoalveolarlavage
|
|
bronchoconstriction
|
|
bronchodilation
|
|
bronchodilator
|
|
bronchoepithelial
|
|
broncholitis
|
|
bronchoprotection
|
|
bronchopulmonary
|
|
bronchospasm
|
|
bronchus
|
Either of the two primary divisions of the trachea that lead respectively into the right and the left lung.
|
broncoalveolar
|
|
brookespiegler
|
|
brosarcoma
|
|
brosis
|
|
broth
|
|
brother
|
|
brothers
|
|
brought
|
|
brown
|
|
browning
|
|
brownlike
|
|
brox
|
BRO1 domain and CAAX motif containing|
|
brp
|
|
brpf
|
|
brr2
|
|
brradykinin
|
|
brrf1
|
|
brs
|
|
brs3
|
|
brs3activated
|
|
brsk1
|
BR serine/threonine kinase 1|
|
brsk12
|
|
brsk2
|
BR serine/threonine kinase 2|
|
bruce
|
|
brucei
|
|
brucella
|
|
brucellosis
|
A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue.
|
bruchs
|
|
bruck
|
|
brugada
|
|
brugadalike
|
|
brugadatype
|
|
brush
|
|
brushborder
|
Dense covering of microvilli on the apical surface of epithelial cells in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell.
|
brushing
|
|
brushings
|
|
bruton
|
|
brutons
|
|
bs69
|
|
bs69mediated
|
|
bsa
|
|
bsac
|
|
bsap
|
|
bsappax5
|
|
bscc
|
|
bscl2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)|This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]
|
bsdl
|
|
bsecretase
|
|
bsensitive
|
|
bsep
|
|
bsepabcb11
|
|
bsg
|
basigin (Ok blood group)|The protein encoded by this gene is a plasma membrane protein that is important in spermatogenesis, embryo implantation, neural network formation, and tumor progression. The encoded protein is also a member of the immunoglobulin superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
bsi
|
|
bsm
|
|
bsmc
|
|
bsmi
|
|
bsnd
|
barttin CLCNK-type chloride channel accessory beta subunit|This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008]
|
bsnmst1
|
|
bsp
|
|
bspa
|
|
bspry
|
B-box and SPRY domain containing|
|
bss
|
|
bssis
|
|
bssl
|
|
bst
|
|
bst1
|
bone marrow stromal cell antigen 1|Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. [provided by RefSeq, Jul 2008]
|
bst1cd38
|
|
bst2
|
bone marrow stromal cell antigen 2|Bone marrow stromal cells are involved in the growth and development of B-cells. The specific function of the protein encoded by the bone marrow stromal cell antigen 2 is undetermined; however, this protein may play a role in pre-B-cell growth and in rheumatoid arthritis. [provided by RefSeq, Jul 2008]
|
bst2mediated
|
|
bst2tetherin
|
|
bst2tetherinmediated
|
|
bstui
|
|
bsx
|
|
bsynthase
|
|
bt474
|
|
bt549
|
|
bta
|
|
btaf1
|
BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa|This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters. [provided by RefSeq, Sep 2011]
|
btak
|
|
btas
|
|
btb
|
|
btbback
|
|
btbd1
|
BTB (POZ) domain containing 1|The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
btbd12
|
|
btbd2
|
BTB (POZ) domain containing 2|The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. [provided by RefSeq, Jul 2008]
|
btbd3
|
BTB (POZ) domain containing 3|
|
btbd9
|
BTB (POZ) domain containing 9|This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]
|
btbkelch
|
|
btbpoz
|
|
btc
|
betacellulin|The protein encoded by this gene is a member of the EGF family of growth factors. It is synthesized primarily as a transmembrane precursor, which is then processed to mature molecule by proteolytic events. This protein is a ligand for the EGF receptor. [provided by RefSeq, Jul 2008]
|
btcc
|
|
btd
|
biotinidase|The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013]
|
bteb1klf9
|
|
bteb1progesterone
|
|
bteb3
|
|
bteb4
|
|
btf
|
|
btf3
|
basic transcription factor 3|This gene encodes the basic transcription factor 3. This protein forms a stable complex with RNA polymerase IIB and is required for transcriptional initiation. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]
|
btg1
|
B-cell translocation gene 1, anti-proliferative|This gene is a member of an anti-proliferative gene family that regulates cell growth and differentiation. Expression of this gene is highest in the G0/G1 phases of the cell cycle and downregulated when cells progressed through G1. The encoded protein interacts with several nuclear receptors, and functions as a coactivator of cell differentiation. This locus has been shown to be involved in a t(8;12)(q24;q22) chromosomal translocation in a case of B-cell chronic lymphocytic leukemia. [provided by RefSeq, Oct 2008]
|
btg2
|
BTG family, member 2|The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein is involved in the regulation of the G1/S transition of the cell cycle. [provided by RefSeq, Jul 2008]
|
btg2tis21pc3
|
|
btg3
|
BTG family, member 3|The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein might play a role in neurogenesis in the central nervous system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
|
btg3dependent
|
|
btg4
|
B-cell translocation gene 4|The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein can induce G1 arrest in the cell cycle. [provided by RefSeq, Jul 2008]
|
btgtob
|
|
bthb
|
|
bths
|
|
btic
|
|
bticinitiated
|
|
btics
|
|
btk
|
Bruton agammaglobulinemia tyrosine kinase|The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
|
btkdependent
|
|
btkinduced
|
|
btla
|
B and T lymphocyte associated|This gene encodes a member of the immunoglobulin superfamily. The encoded protein contains a single immunoglobulin (Ig) domain and is a receptor that relays inhibitory signals to suppress the immune response. Alternative splicing results in multiple transcript variants. Polymorphisms in this gene have been associated with an increased risk of rheumatoid arthritis. [provided by RefSeq, Aug 2011]
|
btlahvem
|
|
btn1a1
|
butyrophilin, subfamily 1, member A1|Butyrophilin is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (MHC) class I region of 6p and may have arisen relatively recently in evolution by the shuffling of exons between 2 ancestral gene families [provided by RefSeq, Jul 2008]
|
btn2a1
|
butyrophilin, subfamily 2, member A1|This gene encodes a member of the immunoglobulin superfamily. The gene is located in a cluster of butyrophilin-like genes in the juxta-telomeric region of the major histocompatibility complex on chromosome 6. A pseudogene of this gene has been identified in this cluster. The encoded protein is an integral plasma membrane protein involved in lipid, fatty-acid, and sterol metabolism. Alterations in this gene may be associated with several disease states including metabolic syndrome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
|
btn3a2
|
butyrophilin, subfamily 3, member A2|This gene encodes a member of the immunoglobulin superfamily, which resides in the juxta-telomeric region of the major histocompatability class 1 locus and is clustered with the other family members on chromosome 6. The encoded protein may be involved in the adaptive immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]
|
btnl2
|
butyrophilin-like 2|
|
btp
|
|
btpabtp1
|
|
btrc
|
beta-transducin repeat containing E3 ubiquitin protein ligase|This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. The encoded protein mediates degradation of CD4 via its interaction with HIV-1 Vpu. It has also been shown to ubiquitinate phosphorylated NFKBIA (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha), targeting it for degradation and thus activating nuclear factor kappa-B. Alternatively spliced transcript variants have been described. A related pseudogene exists in chromosome 6. [provided by RefSeq, Mar 2012]
|
btrcp
|
|
btreated
|
|
bts
|
|
btsh
|
|
btype
|
|
btz
|
|
bu40
|
|
bub1
|
BUB1 mitotic checkpoint serine/threonine kinase|This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a role in inhibiting the activation of the anaphase promoting complex/cyclosome. This protein may also function in the DNA damage response. Mutations in this gene have been associated with aneuploidy and several forms of cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
bub1b
|
BUB1 mitotic checkpoint serine/threonine kinase B|This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008]
|
bub1bpink1
|
|
bub1bubr1
|
|
bub1mediated
|
|
bub3
|
BUB3 mitotic checkpoint protein|This gene encodes a protein involved in spindle checkpoint function. The encoded protein contains four WD repeat domains and has sequence similarity with the yeast BUB3 protein. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
|
bubble
|
|
bubbles
|
|
bubr1
|
|
bubr1dependent
|
|
buc
|
|
buccal
|
|
buche
|
|
buchem
|
|
bucindolol
|
|
buckwheat
|
|
bud
|
Any small part of the embryo or adult metazoon more or less resembling the bud of a plant and presumed to have potential for growth and differentiation.
|
bud13
|
BUD13 homolog (S. cerevisiae)|
|
budd
|
|
buddchiari
|
|
budded
|
|
budding
|
A form of asexual reproduction, occurring in certain bacteria and fungi (e.g. yeasts) and some primitive animals in which an individual arises from a daughter cell formed by pinching off a part of the parent cell. The budlike outgrowths so formed may sometimes remain attached to the parent cell.
|
buddingtsg101
|
|
budesonide
|
A glucocorticoid steroid having a highly oxygenated pregna-1,4-diene structure. It is used mainly in the treatment of asthma and non-infectious rhinitis and for treatment and prevention of nasal polyposis.
|
buds
|
|
budsvesicles
|
|
buerger
|
|
buergers
|
|
bufalin
|
A 14beta-hydroxy steroid that is bufan-20,22-dienolide having hydroxy substituents at the 5beta- and 14beta-positions. It has been isolated from the skin of the toad Bufo bufo.
|
bufalininduced
|
|
buffalo
|
|
buffer
|
|
buffered
|
|
buffering
|
|
buffers
|
|
build
|
|
building
|
|
buildup
|
|
built
|
|
builtin
|
|
bulb
|
A resting stage of a plant (as the lily, onion, hyacinth, or tulip) that is usually formed underground and consists of a short stem base bearing one or more buds enclosed in overlapping membranous or fleshy leaves.
|
bulbar
|
|
bulbs
|
|
bulemia
|
|
bulgarian
|
|
bulge
|
|
bulged
|
|
bulimia
|
An eating disorder that is characterized by a cycle of binge eating (BULIMIA or bingeing) followed by inappropriate acts (purging) to avert weight gain. Purging methods often include self-induced VOMITING, use of LAXATIVES or DIURETICS, excessive exercise, and FASTING.
|
bulimiaspectrum
|
|
bulimic
|
|
bulk
|
|
bulkier
|
|
bulky
|
|
bull
|
|
bullosa
|
|
bullosaassociated
|
|
bullous
|
|
bullseye
|
|
bumetanide
|
A member of the class of benzoic acids that is 4-phenoxybenzoic acid in which the hydrogens ortho to the phenoxy group are substituted by butylamino and sulfamoyl groups. Bumetanide is a diuretic, and is used for treatment of oedema associated with congestive heart failure, hepatic and renal disease.
|
bundle
|
|
bundled
|
|
bundles
|
|
bundling
|
|
bunyamwera
|
|
bunyaviridae
|
|
buoyant
|
|
bupivacaine
|
A racemate composed of equimolar amounts of dextrobupivacaine and levobupivacaine. Used (in the form of its hydrochloride hydrate) as a local anaesthetic.
|
buprenorphine
|
A morphinane alkaloid that is 7,8-dihydromorphine 6-O-methyl ether in which positions 6 and 14 are joined by a -CH2CH2- bridge, one of the hydrogens of the N-methyl group is substituted by cyclopropyl, and a hydrogen at position 7 is substituted by a 2-hydroxy-3,3-dimethylbutan-2-yl group.
|
bupropion
|
A propanone that is propan-1-one substituted by a tert-butylamino group at position 2 and a 3-chlorophenyl group at position 1.
|
bur
|
|
burden
|
|
burdened
|
|
burdens
|
|
burgdorferi
|
|
burgdorferiinduced
|
|
buried
|
|
burkholderia
|
|
burkina
|
|
burkitt
|
|
burkitts
|
|
burkittslike
|
|
burn
|
|
burned
|
|
burnetii
|
|
burning
|
|
burns
|
|
bursa
|
|
bursal
|
|
bursitis
|
|
burst
|
|
bursts
|
|
buruli
|
|
burundese
|
|
buryat
|
|
buryatia
|
|
bushen
|
|
buspirone
|
An azaspiro compound that is 8-azaspiro[4.5]decane-7,9-dione substituted at the nitrogen atom by a 4-(piperazin-1-yl)butyl group which in turn is substituted by a pyrimidin-2-yl group at the nitrogen atom.
|
buster
|
|
busulfan
|
|
butadine
|
|
butein
|
A chalcone that is (E)-chalcone bearing four additional hydroxy substituents at positions 2', 3, 4 and 4'.
|
buteintreated
|
|
buthionine
|
|
butterflyshaped
|
|
butyl
|
|
butyrate
|
|
butyrateinduced
|
|
butyratemediated
|
|
butyratetreated
|
|
butyric
|
|
butyricum
|
|
butyrophilin
|
|
butyrylcholinesterase
|
|
butyrylcholinesterasek
|
|
bv677278
|
|
bv8
|
|
bvr
|
|
bvra
|
|
bvrelated
|
|
bw4
|
|
bw46
|
|
bw4ile80
|
|
bw6
|
|
bwave
|
|
bws
|
|
bx471
|
|
bx7b
|
|
bxdc1
|
|
bxpc3
|
Human pancreatic adenocarcinoma cell line, established from a 61 year old human female.
|
bypass
|
|
bypassed
|
|
bypasses
|
|
bypassing
|
|
byproduct
|
|
byproducts
|
|
byrsonima
|
|
bystander
|
|
bz423
|
|
bzeta
|
|
bzip
|
|
bzlf1
|
|
bzw
|
|
c0602
|
|
c0701
|
|
c0dose
|
|
c10
|
|
c100211101113deltaag
|
|
c101918g
|
|
c1019g
|
|
c1019t
|
|
c1027
|
|
c1048ga
|
|
c1049gt
|
|
c106
|
|
c106a
|
|
c106t
|
|
c10orf90
|
chromosome 10 open reading frame 90|
|
c10orf97
|
|
c10x
|
|
c11
|
|
c1127c
|
|
c1135ct
|
|
c11374g
|
|
c116
|
|
c1165cg
|
|
c1171ga
|
|
c11771178delaa
|
|
c1187ga
|
|
c118t
|
|
c1196ag
|
|
c11orf10
|
|
c11orf25
|
|
c11orf30
|
chromosome 11 open reading frame 30|
|
c11orf30lrrc32
|
|
c11orf59
|
|
c11orf92c11orf93
|
|
c11orf95mkl2
|
|
c11orf95rela
|
|
c12
|
|
c12151218dupccga
|
|
c1236t
|
|
c1243ga
|
|
c12491251
|
|
c127
|
|
c1279ga
|
|
c12orf3
|
|
c12orf30
|
|
c12orf42
|
|
c12orf51
|
|
c13
|
|
c1305
|
|
c1344delc
|
|
c1351gt
|
|
c1363ct
|
|
c1377ct
|
|
c137ga
|
|
c13nj
|
|
c14
|
|
c1402c1402
|
|
c1402t
|
|
c1420t
|
|
c143ga
|
|
c1444t
|
|
c1445ga
|
|
c145
|
|
c1494t
|
|
c14orf1
|
chromosome 14 open reading frame 1|
|
c14orf166
|
chromosome 14 open reading frame 166|
|
c14orf28
|
chromosome 14 open reading frame 28|
|
c1502
|
|
c150t
|
|
c152
|
|
c1528gc
|
|
c156157insalu
|
|
c1562t
|
|
c1565
|
|
c157160delgagg
|
|
c159t
|
|
c16
|
|
c161t
|
|
c162165delaaga
|
|
c1622at
|
|
c1639ga
|
|
c1654t
|
|
c167delt
|
|
c1687ga
|
|
c16ceramide
|
|
c16orf35
|
|
c17
|
|
c171cg
|
|
c17315ga
|
|
c17391740insalu
|
|
c1772t
|
|
c178
|
|
c17t
|
|
c18
|
|
c182dela
|
|
c1858t
|
|
c1867
|
|
c187g
|
|
c187tc
|
|
c188
|
|
c18ceramide
|
|
c19
|
|
c190t
|
|
c1910ct
|
|
c1918cg
|
|
c196
|
|
c196gt
|
|
c19ga
|
|
c19mc
|
|
c19orf12
|
chromosome 19 open reading frame 12|This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
|
c1a
|
|
c1ag
|
|
c1b
|
|
c1c1
|
|
c1c2
|
|
c1c4
|
|
c1d
|
C1D nuclear receptor corepressor|The protein encoded by this gene is a DNA binding and apoptosis-inducing protein and is localized in the nucleus. It is also a Rac3-interacting protein which acts as a corepressor for the thyroid hormone receptor. This protein is thought to regulate TRAX/Translin complex formation. Alternate splicing results in multiple transcript variants that encode the same protein. Multiple pseudogenes of this gene are found on chromosome 10.[provided by RefSeq, Jun 2010]
|
c1galt
|
|
c1galt1
|
core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1|The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010]
|
c1galt1330gt
|
|
c1galt1vc
|
|
c1inh
|
|
c1inhibitor
|
|
c1level
|
|
c1orf103
|
|
c1orf142
|
|
c1orf86
|
chromosome 1 open reading frame 86|
|
c1p
|
|
c1q
|
|
c1qa
|
complement component 1, q subcomponent, A chain|This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. Deficiency of C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N terminus and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the A-chain polypeptide of human complement subcomponent C1q. [provided by RefSeq, Jul 2008]
|
c1qb
|
complement component 1, q subcomponent, B chain|This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. Deficiency of C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N terminus and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the B-chain polypeptide of human complement subcomponent C1q [provided by RefSeq, Jul 2008]
|
c1qc
|
complement component 1, q subcomponent, C chain|This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. A deficiency in C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N-terminus, and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the C-chain polypeptide of human complement subcomponent C1q. Alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
|
c1qc3d
|
|
c1qc4d
|
|
c1qg
|
|
c1qgc1qr
|
|
c1qigg
|
|
c1qmediated
|
|
c1qrelated
|
|
c1qtnf
|
|
c1r
|
complement component 1, r subcomponent|
|
c1rc1s
|
|
c1rlp
|
|
c1s
|
complement component 1, s subcomponent|This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009]
|
c1sc1rc1rc1s
|
|
c1ten
|
|
c20
|
|
c203
|
|
c204
|
|
c20orf112
|
|
c21
|
|
c2111gc
|
|
c211delc
|
|
c211t
|
|
c214242c
|
|
c2157dupt
|
|
c2171ga
|
|
c2210ga
|
|
c222
|
|
c2221
|
|
c2237522375
|
|
c224t
|
|
c2269t
|
|
c226ga
|
|
c228t
|
|
c229y
|
|
c23
|
|
c233a
|
|
c235delc
|
|
c2362f
|
|
c238
|
|
c238ga
|
|
c242t
|
|
c243244insa
|
|
c247ga
|
|
c24t
|
|
c252253insc
|
|
c2531t
|
|
c2548ga
|
|
c25581492558203del54
|
|
c25u
|
|
c260
|
|
c260t
|
|
c262t
|
|
c26392640deltg
|
|
c269ga
|
|
c27
|
|
c274ag
|
|
c28
|
|
c28052808delagat
|
|
c282y
|
|
c282yh63d
|
|
c287ga
|
|
c292
|
|
c292ct
|
|
c2967ca
|
|
c299s
|
|
c2a
|
|
c2alpha
|
|
c2b
|
|
c2bbe1
|
|
c2beta
|
|
c2c12
|
|
c2c2
|
|
c2cer
|
|
c2ceramide
|
|
c2ceramideinduced
|
|
c2cfb
|
|
c2domain
|
|
c2gnt
|
|
c2gnt1
|
|
c2gntexpressing
|
|
c2gntm
|
|
c2gntmcarrying
|
|
c2gntmvc
|
|
c2h2
|
|
c2h2type
|
|
c2ish2
|
|
c2like
|
|
c2orf3
|
|
c2orf43
|
|
c2orf44alk
|
|
c2orf71
|
|
c2oslex
|
|
c2prs
|
|
c2t
|
|
c2tc
|
|
c305
|
|
c3123aat2r2
|
|
c31243133delagcaatatta
|
|
c313t
|
|
c316ga
|
|
c319ct
|
|
c31a
|
|
c31ag
|
|
c31t
|
|
c321
|
|
c3221
|
|
c323
|
|
c326y
|
|
c327
|
|
c329t
|
|
c32t
|
|
c331
|
|
c331a
|
|
c331ct
|
|
c334
|
|
c33a
|
|
c33t
|
|
c3429
|
|
c3435t
|
|
c343ct
|
|
c344t
|
|
c345c
|
|
c34g
|
|
c34t
|
|
c35
|
|
c352t
|
|
c35delg
|
|
c35ga
|
|
c35t
|
|
c36
|
|
c365ag
|
|
c370ct
|
|
c376ct
|
|
c37gc
|
|
c381t
|
|
c382
|
|
c387
|
|
c3a
|
|
c3aanaphylatoxininduced
|
|
c3adesargacylation
|
|
c3ar
|
|
c3arc3a
|
|
c3b
|
|
c3bb
|
|
c3bc4b
|
|
c3bi
|
|
c3binding
|
|
c3d
|
|
c3dcr2
|
|
c3deficient
|
|
c3dp1
|
|
c3f
|
|
c3g
|
|
c3ga
|
|
c3gmay
|
|
c3h10t12
|
|
c3i
|
|
c3mediated
|
|
c3orf10
|
|
c3orf60
|
|
c3orf75elp6
|
|
c3po
|
|
c3r102g
|
|
c41657t
|
|
c418y
|
|
c42
|
|
c421a
|
|
c421t
|
|
c425a
|
|
c4268
|
|
c426ct
|
|
c42b
|
|
c430gt
|
|
c43ta
|
|
c449
|
|
c44a
|
|
c46359t
|
|
c46t
|
|
c47103t
|
|
c480t
|
|
c482t
|
|
c493
|
|
c494ga
|
|
c499t
|
|
c4a
|
complement component 4A (Rodgers blood group)|This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain is cleaved to release C4 anaphylatoxin, an antimicrobial peptide and a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
|
c4aq0
|
|
c4b
|
complement component 4B (Chido blood group)|This gene encodes the basic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq, Jul 2008]
|
c4bbinding
|
|
c4binding
|
|
c4bp
|
|
c4bpbc4bpa
|
|
c4bpbinding
|
|
c4bq0
|
|
c4d
|
|
c4dnegative
|
|
c4gnt
|
|
c4orf32
|
chromosome 4 open reading frame 32|
|
c4orf6
|
|
c4s
|
|
c4st1
|
|
c4type
|
|
c503ga
|
|
c508g
|
|
c509
|
|
c509t
|
|
c50t
|
|
c51145117deltaaa
|
|
c511t
|
|
c514t
|
|
c521delt
|
|
c521t
|
|
c5266dupc
|
|
c52ct
|
|
c52ga
|
|
c53
|
|
c5314at
|
|
c53c53
|
|
c53lzap
|
|
c546110tc
|
|
c55
|
|
c551ga
|
|
c5562ag
|
|
c562ct
|
|
c5639
|
|
c569y
|
|
c56t
|
|
c573t
|
|
c57bl
|
An inbred strain of mouse created in 1921 by C. C. Little at the Bussey Institute for Research in Applied Biology.
|
c57bl6
|
C57BL/6 is a mouse strain as described in Jackson Laboratory strain index
|
c57bl6j
|
C57BL/6J is a mouse strain as described in Jackson Laboratory http://phenome.jax.org/db/q?rtn=strains/details&strainid=7
|
c57bl6nodaec1aec2
|
|
c588t
|
|
c589t
|
|
c590t
|
|
c593t
|
|
c5a
|
|
c5adesarg74
|
|
c5ainduced
|
|
c5amediated
|
|
c5ar
|
|
c5armediated
|
|
c5arp
|
|
c5b6
|
|
c5b9
|
|
c5b9af488
|
|
c5b9induced
|
|
c5bt
|
|
c5epimerase
|
|
c5l2
|
|
c5m3
|
|
c5orf42
|
chromosome 5 open reading frame 42|The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]
|
c5t
|
|
c601cng
|
|
c609t
|
|
c61
|
|
c618r
|
|
c61g
|
|
c627t
|
|
c634g
|
|
c63g
|
|
c640t
|
|
c643
|
|
c64gt
|
|
c6589dela
|
|
c6607t
|
|
c667t
|
|
c674t
|
|
c677
|
|
c677t
|
|
c677tt
|
|
c69t
|
|
c6cer
|
|
c6ceramide
|
|
c6orf204pdgfrb
|
|
c6orf217
|
|
c6orf221
|
|
c6orf26rdbp
|
|
c6orf37
|
|
c6orf48
|
chromosome 6 open reading frame 48|
|
c6orf66interacting
|
|
c6orf97
|
|
c6s
|
|
c6st1
|
|
c704ct
|
|
c7091ga
|
|
c712c712
|
|
c712t
|
|
c718ct
|
|
c71ga
|
|
c722t
|
|
c729delg
|
|
c73r
|
|
c742t
|
|
c74ct
|
|
c7623t
|
|
c776g
|
|
c77g
|
|
c79771gc
|
|
c799
|
|
c7l
|
|
c7orf30
|
|
c7orf59
|
|
c7t
|
|
c80
|
|
c802tc
|
|
c807t
|
|
c8092a
|
|
c80ga
|
|
c81
|
|
c8168agpasp2723gly
|
|
c8246t
|
|
c824t
|
|
c825t
|
|
c8347ga
|
|
c855delg
|
|
c85t
|
|
c871ct
|
|
c889t
|
|
c8993t
|
|
c8alpha
|
|
c8beta
|
|
c8gamma
|
|
c8guanyl
|
|
c8hydroxylation
|
|
c8orf13
|
|
c8orf13blk
|
|
c8orf42were
|
|
c923t
|
|
c929ga
|
|
c936t
|
|
c939t
|
|
c957t
|
|
c958ca
|
|
c970cg
|
|
c972gcmutyh
|
|
c977cghogg1
|
|
c985ct
|
|
c98x
|
|
c99
|
|
c9orf140
|
|
c9orf5
|
|
c9orf65
|
|
c9orf72
|
chromosome 9 open reading frame 72|The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a hexanucleotide repeat in non-coding sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]
|
ca1
|
carbonic anhydrase I|Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This CA1 gene is closely linked to the CA2 and CA3 genes on chromosome 8. It encodes a cytosolic protein that is found at the highest level in erythrocytes. Allelic variants of this gene have been described in some populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
|
ca10
|
|
ca12
|
carbonic anhydrase XII|Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014]
|
ca125
|
|
ca125muc16
|
|
ca150
|
|
ca153
|
|
ca199
|
|
ca2
|
carbonic anhydrase II|The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
|
ca24
|
|
ca24cam
|
|
ca2activated
|
|
ca2affinity
|
|
ca2atpase
|
|
ca2atpases
|
|
ca2binding
|
|
ca2bound
|
|
ca2buffering
|
|
ca2c
|
|
ca2calcineurin
|
|
ca2calgranulin
|
|
ca2calmodulin
|
|
ca2calmodulindependent
|
|
ca2calmodulinindependent
|
|
ca2calpain
|
|
ca2calpainp73
|
|
ca2cam
|
|
ca2camcav12
|
|
ca2camdependent
|
|
ca2camkiidependent
|
|
ca2camkkbeta
|
|
ca2camp
|
|
ca2channel
|
|
ca2cib1
|
|
ca2concentrations
|
|
ca2csensitive
|
|
ca2dependent
|
|
ca2dependently
|
|
ca2differentiated
|
|
ca2ef3driven
|
|
ca2emediated
|
|
ca2entry
|
|
ca2free
|
|
ca2h
|
|
ca2handling
|
|
ca2i
|
|
ca2idependent
|
|
ca2in
|
|
ca2independent
|
|
ca2induced
|
|
ca2influx
|
|
ca2inositolphosphate
|
|
ca2ionophore
|
|
ca2loaded
|
|
ca2mediated
|
|
ca2mg2
|
|
ca2nfat
|
|
ca2o
|
|
ca2occupied
|
|
ca2oinduced
|
|
ca2osensitivity
|
|
ca2permeable
|
|
ca2pkcmapks
|
|
ca2regulated
|
|
ca2release
|
|
ca2rosmediated
|
|
ca2saturated
|
|
ca2selective
|
|
ca2sensing
|
|
ca2sensitive
|
|
ca2sensitivity
|
|
ca2sensitizing
|
|
ca2sensor
|
|
ca2stimulable
|
|
ca2triggered
|
|
ca3
|
carbonic anhydrase III|Carbonic anhydrase III (CAIII) is a member of a multigene family (at least six separate genes are known) that encodes carbonic anhydrase isozymes. These carbonic anhydrases are a class of metalloenzymes that catalyze the reversible hydration of carbon dioxide and are differentially expressed in a number of cell types. The expression of the CA3 gene is strictly tissue specific and present at high levels in skeletal muscle and much lower levels in cardiac and smooth muscle. A proportion of carriers of Duchenne muscle dystrophy have a higher CA3 level than normal. The gene spans 10.3 kb and contains seven exons and six introns. [provided by RefSeq, Oct 2008]
|
ca4
|
carbonic anhydrase IV|Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This gene encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in inherited renal abnormalities of bicarbonate transport. [provided by RefSeq, Jul 2008]
|
ca46
|
|
ca724
|
|
ca8
|
carbonic anhydrase VIII|The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. [provided by RefSeq, Jul 2008]
|
ca9
|
carbonic anhydrase IX|Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA IX is a transmembrane protein and is one of only two tumor-associated carbonic anhydrase isoenzymes known. It is expressed in all clear-cell renal cell carcinoma, but is not detected in normal kidney or most other normal tissues. It may be involved in cell proliferation and transformation. This gene was mapped to 17q21.2 by fluorescence in situ hybridization, however, radiation hybrid mapping localized it to 9p13-p12. [provided by RefSeq, Jun 2014]
|
ca922
|
|
caa
|
|
caaa
|
|
caaac
|
|
caad
|
|
caagcc
|
|
caaml
|
|
caancer
|
|
caarcinoma
|
|
caarelated
|
|
caat
|
|
caatenhancer
|
|
caatenhancerbinding
|
|
caax
|
|
cab
|
|
cab39
|
calcium binding protein 39|
|
cab45s
|
|
cabcer
|
|
cabg
|
Surgical therapy of ischemic coronary artery disease achieved by grafting a section of saphenous vein, internal mammary artery, or other substitute between the aorta and the obstructed coronary artery distal to the obstructive lesion.
|
cabin1
|
calcineurin binding protein 1|Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated signal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as several PEST motifs, sequences which confer targeted degradation to those proteins which contain them. Alternative splicing results in multiple transcript variants encoding two different isoforms. [provided by RefSeq, Jan 2011]
|
cabinding
|
|
cabl
|
|
cablcrkassociated
|
|
cabldependent
|
|
cablinteracting
|
|
cablmediated
|
|
cablmst
|
|
cablpkcdelta
|
|
cablpkcdeltarac1p38
|
|
cabp
|
|
cabp1
|
calcium binding protein 1|Calcium binding proteins are an important component of calcium mediated cellular signal transduction. This gene encodes a protein that belongs to a subfamily of calcium binding proteins which share similarity to calmodulin. The protein encoded by this gene regulates the gating of voltage-gated calcium ion channels. This protein inhibits calcium-dependent inactivation and supports calcium-dependent facilitation of ion channels containing voltage-dependent L-type calcium channel subunit alpha-1C. This protein also regulates calcium-dependent activity of inositol 1,4,5-triphosphate receptors, P/Q-type voltage-gated calcium channels, and transient receptor potential channel TRPC5. This gene is predominantly expressed in retina and brain. Alternative splicing results in multiple transcript variants encoding disinct isoforms. [provided by RefSeq, Jul 2012]
|
cabp1p5
|
|
cabp4
|
calcium binding protein 4|This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
|
cabp7
|
|
cabps
|
|
cabyr
|
calcium binding tyrosine-(Y)-phosphorylation regulated|To reach fertilization competence, spermatozoa undergo a series of morphological and molecular maturational processes, termed capacitation, involving protein tyrosine phosphorylation and increased intracellular calcium. The protein encoded by this gene localizes to the principal piece of the sperm flagellum in association with the fibrous sheath and exhibits calcium-binding when phosphorylated during capacitation. A pseudogene on chromosome 3 has been identified for this gene. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
|
cac
|
|
cac02
|
|
cac1
|
|
cac2
|
|
cacalmodulin
|
|
cacc
|
|
caccc
|
|
cacd
|
|
cacgtg
|
|
cach
|
|
cachectic
|
|
cachexia
|
Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.
|
cachexiaassociated
|
|
cachexiarelated
|
|
cacinoma
|
|
cacna1a
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit|Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Mar 2010]
|
cacna1b
|
calcium channel, voltage-dependent, N type, alpha 1B subunit|The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
|
cacna1c
|
calcium channel, voltage-dependent, L type, alpha 1C subunit|This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]
|
cacna1ccacnb2
|
|
cacna1d
|
calcium channel, voltage-dependent, L type, alpha 1D subunit|Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
|
cacna1f
|
calcium channel, voltage-dependent, L type, alpha 1F subunit|This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013]
|
cacna1g
|
calcium channel, voltage-dependent, T type, alpha 1G subunit|Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011]
|
cacna1s
|
calcium channel, voltage-dependent, L type, alpha 1S subunit|This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]
|
cacna2d1
|
calcium channel, voltage-dependent, alpha 2/delta subunit 1|The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some of which may lack the delta subunit portion. [provided by RefSeq, Nov 2014]
|
cacna2d2
|
calcium channel, voltage-dependent, alpha 2/delta subunit 2|Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
|
cacna2d3
|
calcium channel, voltage-dependent, alpha 2/delta subunit 3|This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
|
cacnb2
|
calcium channel, voltage-dependent, beta 2 subunit|This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]
|
cacnb2b
|
|
cacnb4
|
calcium channel, voltage-dependent, beta 4 subunit|This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE) and juvenile myoclonic epilepsy (JME). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
|
cacner
|
|
caco
|
|
caco2
|
|
caco215
|
|
caco2bbe
|
|
caco2bbenhe3
|
|
caco2tc7
|
|
cacs
|
|
cact
|
|
cactus
|
|
cacul1
|
CDK2-associated, cullin domain 1|
|
cacx
|
|
cacybp
|
calcyclin binding protein|The protein encoded by this gene is a calcyclin binding protein. It may be involved in calcium-dependent ubiquitination and subsequent proteosomal degradation of target proteins. It probably serves as a molecular bridge in ubiquitin E3 complexes and participates in the ubiquitin-mediated degradation of beta-catenin. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
cacybpsip
|
|
cad
|
Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE).|Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.|Narrowing of the coronary arteries due to fatty deposits inside the arterial walls.|An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels.
|
cadasil
|
|
cadassociated
|
|
cadaver
|
|
cadein1
|
|
cadependent
|
|
caderofloxacin
|
|
cadherin
|
|
cadherin11
|
|
cadherin17
|
|
cadherin23
|
|
cadherinassociated
|
|
cadherinbased
|
|
cadherincatenin
|
|
cadherindeficient
|
|
cadherine
|
|
cadherinmediated
|
|
cadherins
|
|
cadin
|
|
cadm1
|
cell adhesion molecule 1|
|
cadm1m18
|
|
cadmi
|
|
cadmium
|
|
cadmiuminduced
|
|
cadpr
|
|
cadprrelated
|
|
cadps2
|
Ca++-dependent secretion activator 2|This gene encodes a member of the calcium-dependent activator of secretion (CAPS) protein family, which are calcium binding proteins that regulate the exocytosis of synaptic and dense-core vesicles in neurons and neuroendocrine cells. Mutations in this gene may contribute to autism susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009]
|
cadre
|
|
cadrs
|
|
cae
|
|
caebv
|
|
caenorhabditis
|
|
caerphilly
|
|
caeruleus
|
|
caesarean
|
|
caesarian
|
|
caev
|
|
caexpas
|
|
caf
|
|
caf1
|
|
caf1a
|
|
caf1b
|
|
cafe
|
|
cafeaulait
|
|
cafestol
|
A naphthofuran that has formula C20H28O3.
|
caffeic
|
|
caffeinated
|
|
caffeine
|
A trimethylxanthine in which the three methyl groups are located at positions 1, 3, and 7. A purine alkaloid that occurs naturally in tea and coffee.
|
caffeinecoffee
|
|
caffeineinduced
|
|
caffeinetreated
|
|
cafs
|
|
cag
|
|
caga
|
|
cagadirected
|
|
cagaindependent
|
|
cagamediated
|
|
cagapositive
|
|
cagavacas1
|
|
cagavacas1m1
|
|
cagcaa
|
|
cagctg
|
|
cage
|
Cap analysis gene expression (CAGE) is an experimental process which allows high-throughput identification of sequence tags corresponding to 5′ ends of mRNA at the cap sites and the identification of the transcriptional starting point (TSP).
|
cage1
|
|
caged
|
|
cages
|
|
cagl
|
|
cagly58e59
|
|
cagn
|
|
cagnctgn
|
|
cagocel
|
|
cagpai
|
|
cagpaihelicobacter
|
|
cagrepeat
|
|
cagtag
|
|
cah
|
|
cahl
|
|
cai
|
|
cai2
|
|
caid
|
|
caii
|
|
caiii
|
|
cain
|
|
caincabin1
|
|
caindependent
|
|
cainduced
|
|
caiv
|
|
caix
|
|
cajal
|
|
cajallike
|
|
cajalretzius
|
|
cak
|
Catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein; increases the activity of a cyclin-dependent protein kinase (CDK).
|
cakcdk7
|
|
caki
|
|
caki1
|
|
caki2
|
|
cakt
|
|
caktregulated
|
|
cakut
|
|
cal
|
|
cal27
|
|
calabria
|
|
calbindin
|
|
calbindind28k
|
|
calbindind9k
|
|
calbindinpositive
|
|
calcaneal
|
|
calcaneus
|
|
calcidiol
|
A hydroxycalciol that is calciol in which the hydrogen at position 25 has been replaced by a hydroxy group. A prehormone resulting from the oxidation of calciol in the liver, it is further hydroxylated in the kidney to give calcitriol, the active form of vitamin D3.
|
calcific
|
|
calcification
|
|
calcificationassociated
|
|
calcificationrelated
|
|
calcifications
|
|
calcified
|
|
calcifying
|
|
calcimimetic
|
|
calcineurin
|
|
calcineurincyclophilincyclosporin
|
|
calcineurindependent
|
|
calcineurinmediated
|
|
calcineurinnfat
|
|
calcineurinnfatc
|
|
calcineurinregulated
|
|
calcinosis
|
A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue.
|
calciotropic
|
|
calcipotriol
|
A seco-cholestane that has formula C27H40O3.
|
calcite
|
|
calcitonin
|
|
calcitonincgrp
|
|
calcitrio
|
|
calcitriol
|
A hydroxycalciol that is calcidiol in which the pro-S hydrogen of calcidiol is replaced by a hydroxy group. It is the active form of vitamin D3, produced fom calciol via hydoxylation in the liver to form calcidiol, which is subsequently oxidised in the kidney to give calcitriol.
|
calcitriolinduced
|
|
calcitriolmediated
|
|
calcitropic
|
|
calcium
|
|
calcium2permeable
|
|
calciumactivated
|
|
calciumbased
|
|
calciumbinding
|
|
calciumbound
|
|
calciumcalmodulin
|
|
calciumcalmodulindependent
|
|
calciumcalpaincaspase12caspase3
|
|
calciumcamakt
|
|
calciumchannel
|
|
calciumdependent
|
|
calciumindependent
|
|
calciuminduced
|
|
calciumion
|
|
calciumloaded
|
|
calciummediated
|
|
calciummodulating
|
|
calciummodulator
|
|
calciumpermeable
|
|
calciumphosphate
|
|
calciumregulated
|
|
calciumregulating
|
|
calciumselective
|
|
calciumsensing
|
|
calciumsensitive
|
|
calciumsensitivity
|
|
calciumstimulated
|
|
calciumvitamin
|
|
calcr
|
calcitonin receptor|This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating osteoclast-mediated bone resorption. Polymorphisms in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
|
calcrl
|
calcitonin receptor-like|
|
calcrlramp
|
|
calculate
|
|
calculated
|
|
calculating
|
|
calculation
|
|
calculations
|
|
calculator
|
|
calculi
|
|
calculous
|
|
calculus
|
|
calcyclin
|
|
calcyon
|
|
cald1
|
caldesmon 1|This gene encodes a calmodulin- and actin-binding protein that plays an essential role in the regulation of smooth muscle and nonmuscle contraction. The conserved domain of this protein possesses the binding activities to Ca(2+)-calmodulin, actin, tropomyosin, myosin, and phospholipids. This protein is a potent inhibitor of the actin-tropomyosin activated myosin MgATPase, and serves as a mediating factor for Ca(2+)-dependent inhibition of smooth muscle contraction. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
|
caldaggefi
|
|
caldendrin
|
|
caldesmon
|
|
calf
|
|
calf1
|
|
calf2
|
|
calgizzarin
|
|
calgranulin
|
|
calhm1
|
|
calhm1mediated
|
|
caliber
|
|
calibration
|
|
calibre
|
|
california
|
|
californians
|
|
call
|
|
called
|
|
callele
|
|
calling
|
|
callithrix
|
|
callosal
|
|
callosum
|
|
callosumcausing
|
|
callousunemotional
|
|
calls
|
|
callus
|
Undifferentiated tissue that develops on or around an injured or cut plant surface or in tissue culture.
|
calm
|
|
calm1
|
calmodulin 1 (phosphorylase kinase, delta)|This gene encodes a member of the EF-hand calcium-binding protein family. It is one of three genes which encode an identical calcium binding protein which is one of the four subunits of phosphorylase kinase. Two pseudogenes have been identified on chromosome 7 and X. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
|
calmaf10
|
|
calmaf10in
|
|
calmetteguerin
|
|
calmodulin
|
|
calmodulinbinding
|
Interacting selectively and non-covalently with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
|
calmodulincamkiidependent
|
|
calmodulinckii
|
|
calmodulindependent
|
|
calmodulinregulated
|
|
calnexin
|
|
calnexindependent
|
|
calnnfat
|
|
calnuc
|
|
caloric
|
|
calorie
|
|
calories
|
|
calorimetric
|
|
calorimetry
|
|
calp
|
|
calpactin
|
|
calpain
|
|
calpain1
|
|
calpain10
|
|
calpain2
|
|
calpain3
|
|
calpain5
|
|
calpain6
|
|
calpain7
|
|
calpainactivated
|
|
calpainb
|
|
calpaincalpastatin
|
|
calpaindependent
|
|
calpainindependent
|
|
calpainmediated
|
|
calpainopathy
|
|
calpains
|
|
calpastatin
|
|
calpastatinbased
|
|
calpastatincalpain
|
|
calpha
|
|
calphacamkii
|
|
calphaformylglycinegenerating
|
|
calphoglin
|
|
calphostin
|
|
calponin
|
|
calponinhomology
|
|
calprotectin
|
|
calr
|
calreticulin|Calreticulin is a multifunctional protein that acts as a major Ca(2+)-binding (storage) protein in the lumen of the endoplasmic reticulum. It is also found in the nucleus, suggesting that it may have a role in transcription regulation. Calreticulin binds to the synthetic peptide KLGFFKR, which is almost identical to an amino acid sequence in the DNA-binding domain of the superfamily of nuclear receptors. Calreticulin binds to antibodies in certain sera of systemic lupus and Sjogren patients which contain anti-Ro/SSA antibodies, it is highly conserved among species, and it is located in the endoplasmic and sarcoplasmic reticulum where it may bind calcium. The amino terminus of calreticulin interacts with the DNA-binding domain of the glucocorticoid receptor and prevents the receptor from binding to its specific glucocorticoid response element. Calreticulin can inhibit the binding of androgen receptor to its hormone-responsive DNA element and can inhibit androgen receptor and retinoic acid receptor transcriptional activities in vivo, as well as retinoic acid-induced neuronal differentiation. Thus, calreticulin can act as an important modulator of the regulation of gene transcription by nuclear hormone receptors. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin but calreticulin is not a Ro/SS-A antigen. Earlier papers referred to calreticulin as an Ro/SS-A antigen but this was later disproven. Increased autoantibody titer against human calreticulin is found in infants with complete congenital heart block of both the IgG and IgM classes. [provided by RefSeq, Jul 2008]
|
calrasxl1
|
|
calreticulin
|
|
calreticulincalnexin
|
|
calreticulindependent
|
|
calreticulinlrp1
|
|
calreticulinmediated
|
|
calretinin
|
|
calrmut
|
|
calrmutated
|
|
cals
|
|
calsenilin
|
|
calsequestrin
|
|
calsequestrin1
|
|
calsyntenin1
|
|
calu
|
calumenin|The product of this gene is a calcium-binding protein localized in the endoplasmic reticulum (ER) and it is involved in such ER functions as protein folding and sorting. This protein belongs to a family of multiple EF-hand proteins (CERC) that include reticulocalbin, ERC-55, and Cab45 and the product of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
|
calu12egfp
|
|
calu12egfpcontaining
|
|
calu15
|
|
calu3
|
|
calumenin
|
|
calvaria
|
|
calvarial
|
|
calve
|
|
calyces
|
|
calyculin
|
|
cam
|
|
cam1
|
|
cam52
|
|
cama2ad2
|
|
cambd
|
|
cambinding
|
Interacting selectively and non-covalently with a cell adhesion molecule.
|
cambridge
|
|
camcer
|
|
camdependent
|
|
camdi
|
|
camdr
|
|
came
|
|
camel
|
|
camendocytosis
|
|
cameroon
|
|
camf90lryr2
|
|
camfasdd
|
|
camk
|
|
camk1d
|
calcium/calmodulin-dependent protein kinase ID|This gene is a member of the calcium/calmodulin-dependent protein kinase 1 family, a subfamily of the serine/threonine kinases. The encoded protein is a component of the calcium-regulated calmodulin-dependent protein kinase cascade. It has been associated with multiple processes including regulation of granulocyte function, activation of CREB-dependent gene transcription, aldosterone synthesis, differentiation and activation of neutrophil cells, and apoptosis of erythroleukemia cells. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jan 2015]
|
camk1g
|
calcium/calmodulin-dependent protein kinase IG|This gene encodes a protein similar to calcium/calmodulin dependent protein kinase, however, its exact function is not known. [provided by RefSeq, Jul 2008]
|
camk2a
|
calcium/calmodulin-dependent protein kinase II alpha|The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2008]
|
camk2b
|
calcium/calmodulin-dependent protein kinase II beta|The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
|
camk2n2
|
calcium/calmodulin-dependent protein kinase II inhibitor 2|This gene encodes a protein that is highly similar to the rat CaM-KII inhibitory protein, an inhibitor of calcium/calmodulin-dependent protein kinase II (CAMKII). CAMKII regulates numerous physiological functions, including neuronal synaptic plasticity through the phosphorylation of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid-type glutamate (AMPA) receptors. Studies of the similar protein in rat suggest that this protein may function as a negative regulator of CaM-KII and may act to inhibit the phosphorylation of AMPA receptors. [provided by RefSeq, Jul 2008]
|
camk4
|
calcium/calmodulin-dependent protein kinase IV|The product of this gene belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This enzyme is a multifunctional serine/threonine protein kinase with limited tissue distribution, that has been implicated in transcriptional regulation in lymphocytes, neurons and male germ cells. [provided by RefSeq, Jul 2008]
|
camk4dependent
|
|
camk4induced
|
|
camki
|
|
camkialpha
|
|
camkii
|
|
camkiia
|
|
camkiialpha
|
|
camkiid
|
|
camkiidelta
|
|
camkiidelta6
|
|
camkiideltab
|
|
camkiidependent
|
|
camkiigamma
|
|
camkiimediated
|
|
camkiv
|
|
camkivcrebbcl2
|
|
camkivregulated
|
|
camkk
|
|
camkk2
|
calcium/calmodulin-dependent protein kinase kinase 2, beta|The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. The major isoform of this gene plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade by phosphorylating the downstream kinases CaMK1 and CaMK4. Protein products of this gene also phosphorylate AMP-activated protein kinase (AMPK). This gene has its strongest expression in the brain and influences signalling cascades involved with learning and memory, neuronal differentiation and migration, neurite outgrowth, and synapse formation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. The identified isoforms differ in their ability to undergo autophosphorylation and to phosphorylate downstream kinases. [provided by RefSeq, Jul 2012]
|
camkkaktp300
|
|
camkkalpha
|
|
camkkb
|
|
camkkbeta
|
|
camkkbetaampk
|
|
camkkii
|
|
caml
|
|
camnav12iqp
|
|
camp
|
cathelicidin antimicrobial peptide|This gene encodes a member of an antimicrobial peptide family, characterized by a highly conserved N-terminal signal peptide containing a cathelin domain and a structurally variable cationic antimicrobial peptide, which is produced by extracellular proteolysis from the C-terminus. In addition to its antibacterial, antifungal, and antiviral activities, the encoded protein functions in cell chemotaxis, immune mediator induction, and inflammatory response regulation. [provided by RefSeq, Sep 2014]
|
campalpha
|
|
campania
|
|
campassociated
|
|
campath1h
|
|
campathtreated
|
|
campbinding
|
Interacting selectively and non-covalently with cAMP, the nucleotide cyclic AMP (adenosine 3',5'-cyclophosphate).
|
campcreb1
|
|
campcrebatf
|
|
campdependent
|
|
campdetermined
|
|
campelevating
|
|
campepac
|
|
campepac1rap1
|
|
campepacrap1
|
|
campepacrap1socs3
|
|
campesterol
|
|
campfoxp3dependent
|
|
campindependent
|
|
campinduced
|
|
campmediated
|
|
campothecin
|
|
camppcreb
|
|
camppi3kpkbmekerk12trpc6
|
|
camppka
|
|
camppkaca2
|
|
camppkacreb
|
|
camppkacrebactivated
|
|
camppkadependent
|
|
camppkaerk
|
|
camppkapathway
|
|
camppkatiam1rac1
|
|
campprotein
|
|
campregulated
|
|
campresponse
|
|
campresponsive
|
|
camprhoasignaling
|
|
campsignaling
|
Any intracellular signal transduction in which the signal is passed on within the cell via cyclic AMP (cAMP). Includes production of cAMP, and downstream effectors that further transmit the signal within the cell.
|
campsp1
|
|
campspecific
|
|
campstimulated
|
|
camptodactyly
|
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
|
camptothecin
|
A pyranoindolizinoquinoline that has formula C20H16N2O4.
|
camptothecindriven
|
|
camptothecininduced
|
|
camptothecintreated
|
|
campvasoactive
|
|
campylobacter
|
|
cams
|
|
camsap1
|
calmodulin regulated spectrin-associated protein 1|
|
camsappatronin
|
|
camt
|
|
camta1
|
calmodulin binding transcription activator 1|
|
camta1wwtr1
|
|
camy1
|
|
canada
|
|
canadian
|
|
canadians
|
|
canakkale
|
|
canal
|
|
canalicular
|
|
canaliculi
|
|
canaliculus
|
|
canalisation
|
|
canals
|
|
canary
|
|
cance
|
|
canceer
|
|
canceled
|
|
cancellous
|
|
cancels
|
|
cancera
|
|
canceraffected
|
|
cancerassociated
|
|
cancerassociatedmesenchymal
|
|
cancerbearing
|
|
cancercausing
|
|
cancercell
|
|
cancercrc
|
|
cancercrctissues
|
|
cancerderived
|
|
cancerdriver
|
|
cancerendothelial
|
|
cancereoc
|
|
cancerfound
|
|
cancerfree
|
|
cancergrowth
|
|
cancerhigh
|
|
cancerinduced
|
|
cancerinitiating
|
|
canceris
|
|
cancerization
|
|
cancerlinked
|
|
cancermetaanalysis
|
|
cancernormal
|
|
cancernsclc
|
|
cancerogenesis
|
|
cancerous
|
|
cancerpca
|
|
cancerpredisposing
|
|
cancerpromoting
|
|
cancerprone
|
|
cancerracgap1
|
|
cancerrelated
|
|
cancerrelevant
|
|
cancerresistant
|
|
cancerresults
|
|
cancerretina
|
|
cancerreview
|
|
cancers
|
|
cancersinactivation
|
|
cancerspecific
|
|
cancersreview
|
|
cancerstageassociated
|
|
cancerstromal
|
|
cancersusceptibility
|
|
cancersustaining
|
|
cancertestis
|
|
cancertestisassociated
|
|
cancerthere
|
|
cancervby
|
|
cand1
|
cullin-associated and neddylation-dissociated 1|
|
cand1cul1roc1
|
|
cand2
|
cullin-associated and neddylation-dissociated 2 (putative)|
|
candesartan
|
A benzimidazolecarboxylic acid that is 1H-benzimidazole-7-carboxylic acid substituted by an ethoxy group at position 2 and a ({2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl}methyl) group at position 1. It is a angiotensin receptor antagonist used for the treatment of hypertension.
|
candian
|
|
candida
|
|
candidacidal
|
|
candidacy
|
|
candidainfected
|
|
candidaspecific
|
|
candidate
|
|
candidategene
|
|
candidates
|
|
candidature
|
|
candidemia
|
|
candidiasis
|
An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons.
|
candidosis
|
|
candis
|
|
caner
|
|
cangrelor
|
|
canine
|
|
canines
|
|
canis
|
|
cannabidiol
|
An organic molecular entity that has formula C21H30O2.
|
cannabinoid
|
A diverse group of pharmacologically active secondary metabolite characteristic to Cannabis plant as well as produced naturally in the body by humans and animals. Cannabinoids contain oxygen as a part of the heterocyclic ring or in the form of various functional groups. They are subdivided on the basis of their origin.
|
cannabinoid1
|
|
cannabinoidinduced
|
|
cannabinoids
|
|
cannabinol
|
|
cannabis
|
|
cannibalism
|
|
cannonical
|
|
cannot
|
|
cannup214
|
|
canonic
|
|
canonical
|
|
canril
|
|
cant
|
|
cantly
|
|
cantonensis
|
|
cantonese
|
|
canuts
|
|
canx
|
calnexin|This gene encodes a member of the calnexin family of molecular chaperones. The encoded protein is a calcium-binding, endoplasmic reticulum (ER)-associated protein that interacts transiently with newly synthesized N-linked glycoproteins, facilitating protein folding and assembly. It may also play a central role in the quality control of protein folding by retaining incorrectly folded protein subunits within the ER for degradation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
|
caov3
|
|
caox
|
|
cap
|
|
cap1
|
CAP, adenylate cyclase-associated protein 1 (yeast)|The protein encoded by this gene is related to the S. cerevisiae CAP protein, which is involved in the cyclic AMP pathway. The human protein is able to interact with other molecules of the same protein, as well as with CAP2 and actin. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2008]
|
cap18
|
|
cap2
|
CAP, adenylate cyclase-associated protein, 2 (yeast)|This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein and actin. [provided by RefSeq, Jul 2008]
|
cap350
|
|
cap43
|
|
capabilities
|
|
capability
|
|
capable
|
|
capably
|
|
capacitance
|
|
capacitation
|
|
capacitative
|
|
capacities
|
|
capacity
|
|
capacitydegree
|
|
capaf1
|
|
capaf1caspase
|
|
capaf1dependent
|
|
capan1
|
|
capan2
|
|
capase3
|
|
capbinding
|
|
capc
|
|
capd
|
|
capd3
|
|
capdependent
|
|
cape
|
|
capecitabine
|
|
capecitabineinduced
|
|
capecitabineraltitrexed
|
|
caperalpha
|
|
capg
|
capping protein (actin filament), gelsolin-like|This gene encodes a member of the gelsolin/villin family of actin-regulatory proteins. The encoded protein reversibly blocks the barbed ends of F-actin filaments in a Ca2+ and phosphoinositide-regulated manner, but does not sever preformed actin filaments. By capping the barbed ends of actin filaments, the encoded protein contributes to the control of actin-based motility in non-muscle cells. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2012]
|
capgly
|
|
capglymediated
|
|
caph
|
|
capicua
|
|
capillaries
|
|
capillarization
|
|
capillarized
|
|
capillaroscopy
|
|
capillary
|
A capillary tube; especially: any of the smallest blood vessels connecting arterioles with venules and forming networks throughout the body.
|
capillarylike
|
|
capindependent
|
|
capinitiation
|
|
capital
|
|
capn
|
|
capn1
|
calpain 1, (mu/I) large subunit|The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
|
capn10
|
calpain 10|Calpains represent a ubiquitous, well-conserved family of calcium-dependent cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described for this gene. [provided by RefSeq, Sep 2010]
|
capn3
|
calpain 3, (p94)|Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008]
|
capn4
|
|
capn5
|
calpain 5|Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A functional calpain protein consists of an invariant small subunit and 1 of a family of large subunits. CAPN5 is one of the large subunits. Unlike some of the calpains, CAPN5 and CAPN6 lack a calmodulin-like domain IV. Because of the significant similarity to Caenorhabditis elegans sex determination gene tra-3, CAPN5 is also called as HTRA3. [provided by RefSeq, Jul 2008]
|
capn7
|
calpain 7|Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The function of the protein encoded by this gene is not known. An orthologue has been found in mouse but it seems to diverge from other family members. The mouse orthologue is thought to be calcium independent with protease activity. [provided by RefSeq, Jul 2008]
|
capns
|
|
capns1
|
calpain, small subunit 1|This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subunit in Calpain I, and calpain 2 subunit in Calpain II), and a common small regulatory subunit encoded by this gene. This encoded protein is essential for the stability and function of both calpain heterodimers, whose proteolytic activities influence various cellular functions including apoptosis, proliferation, migration, adhesion, and autophagy. Calpains have been implicated in neurodegenerative processes, such as myotonic dystrophy. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
|
capox
|
|
capped
|
|
capper
|
|
capping
|
|
cappl1aappl2
|
|
cappuzzo
|
|
capri
|
|
caprin1
|
cell cycle associated protein 1|
|
caprin1g3bp1
|
|
caprin2
|
caprin family member 2|The protein encoded by this gene may be involved in the transitioning of erythroblasts from a highly proliferative state to a terminal phase of differentiation. High level expression of the encoded protein can lead to apoptosis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
|
caprine
|
|
caps
|
|
caps1
|
|
capsaicin
|
A capsaicinoid that has formula C18H27NO3.
|
capsaicinmediated
|
|
capsaicinsensitive
|
|
capsazepine
|
A benzazepine that is 2,3,4,5-tetrahydro-1H-2-benzazepine which is substituted by hydroxy groups at positions 7 and 8 and on the nitrogen atom by a 2-(p-chlorophenyl)ethylaminothiocarbonyl group. A synthetic analogue of capsaicin, it was the first reported capsaicin receptor antagonist.
|
capsid
|
|
capsids
|
|
capsular
|
|
capsule
|
A protective structure surrounding some fungi and bacteria, attached externally to the cell wall and composed primarily of polysaccharides. Capsules are highly organized structures that adhere strongly to cells and cannot be easily removed. Capsules play important roles in pathogenicity, preventing phagocytosis by other cells, adherance, and resistance to dessication.
|
capsules
|
|
captopril
|
A L-proline derivative in which L-proline is substituted on nitrogen with a (2S)-2-methyl-3-sulfanylpropanoyl group. It is used as an anti-hypertensive ACE inhibitor drug.
|
capture
|
|
captured
|
|
captures
|
|
capturing
|
|
caput
|
|
capz
|
|
capzalpha
|
|
capzip
|
|
caqrcinogenesis
|
|
car
|
A cytoskeletal structure composed of actin filaments and myosin that forms beneath the plasma membrane of many cells, including animal cells and yeast cells, in a plane perpendicular to the axis of the spindle, i.e. the cell division plane. Ring contraction is associated with centripetal growth of the membrane that divides the cytoplasm of the two daughter cells. In animal cells, the contractile ring is located inside the plasma membrane at the location of the cleavage furrow. In budding fungal cells, e.g. mitotic S. cerevisiae cells, the contractile ring forms beneath the plasma membrane at the mother-bud neck before mitosis.
|
caraqp2
|
|
carbachol
|
An ammonium salt that has formula C6H15N2O2.Cl.
|
carbacholinduced
|
|
carbamazepine
|
A dibenzoazepine that is 5H-dibenzo[b,f]azepine carrying a carbamoyl substituent at the azepine nitrogen, used as an anticonvulsant.
|
carbamazepineinduced
|
|
carbamoyl
|
|
carbamoylphosphate
|
|
carbamoyltransferase
|
|
carbamoyltransferasedihydroorotase
|
|
carbamylated
|
|
carbamylation
|
|
carbimazole
|
|
carbocysteine
|
|
carbohydrate
|
Any member of the class of organooxygen compounds that is a polyhydroxy-aldehyde or -ketone or a lactol resulting from their intramolecular condensation (monosaccharides); substances derived from these by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom; and polymeric products arising by intermolecular acetal formation between two or more such molecules (disaccharides, polysaccharides and oligosaccharides). Carbohydrates contain only carbon, hydrogen and oxygen atoms; prior to any oxidation or reduction, most have the empirical formula Cm(H2O)n. Compounds obtained from carbohydrates by substitution, etc., are known as carbohydrate derivatives and may contain other elements. Cyclitols are generally not regarded as carbohydrates.
|
carbohydratebinding
|
Interacting selectively and non-covalently with any carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates.
|
carbohydratedependent
|
|
carbohydratelinked
|
|
carbohydratelow
|
|
carbohydraterecognition
|
|
carbohydraterich
|
|
carbohydrates
|
|
carbohydratespecific
|
|
carbon
|
|
carbonate
|
|
carbonatebased
|
|
carbonic
|
|
carbonion
|
|
carbonyl
|
|
carbonylated
|
|
carbonylation
|
|
carbonyls
|
|
carboplatin
|
A platinum coordination entity with cis square-planar geometry in which platinum(II) is coordinated to two ammonia ligands and a bidentate cyclobutane-1,1-dicarboxylate ligand.
|
carboplatingemcitabine
|
|
carboxamide
|
|
carboxy
|
|
carboxykinase
|
|
carboxyl
|
|
carboxylase
|
|
carboxylasealpha
|
|
carboxylate
|
|
carboxylatecontaining
|
|
carboxylated
|
|
|