| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
ABAT
|
4-aminobutyrate aminotransferase
|
|
ABCB7
|
ATP-binding cassette, sub-family B (MDR/TAP), member 7
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ABCD4
|
ATP-binding cassette, sub-family D (ALD), member 4
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ABHD5
|
abhydrolase domain containing 5
|
|
ACAD9
|
acyl-CoA dehydrogenase family, member 9
|
|
ACADM
|
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
|
|
ACADS
|
acyl-CoA dehydrogenase, C-2 to C-3 short chain
|
|
ACADSB
|
acyl-CoA dehydrogenase, short/branched chain
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACO2
|
aconitase 2, mitochondrial
|
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ACTA2
|
actin, alpha 2, smooth muscle, aorta
|
|
ACTB
|
actin, beta
|
|
ACTG1
|
actin gamma 1
|
|
ACTG2
|
actin, gamma 2, smooth muscle, enteric
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
ACY1
|
aminoacylase 1
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
ADAT3
|
adenosine deaminase, tRNA-specific 3
|
|
ADCK3
|
aarF domain containing kinase 3
|
|
ADGRG1
|
adhesion G protein-coupled receptor G1
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
ADK
|
adenosine kinase
|
|
ADSL
|
adenylosuccinate lyase
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
AGA
|
aspartylglucosaminidase
|
|
AGGF1
|
angiogenic factor with G patch and FHA domains 1
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AGT
|
angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
|
|
AGTR1
|
angiotensin II receptor, type 1
|
|
AHDC1
|
AT hook, DNA binding motif, containing 1
|
|
AHI1
|
Abelson helper integration site 1
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
AIMP1
|
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
|
AIRE
|
autoimmune regulator
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
AKT3
|
v-akt murine thymoma viral oncogene homolog 3
|
|
ALDH1A3
|
aldehyde dehydrogenase 1 family, member A3
|
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
|
ALDH5A1
|
aldehyde dehydrogenase 5 family, member A1
|
|
ALDH7A1
|
aldehyde dehydrogenase 7 family, member A1
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
ALG13
|
ALG13, UDP-N-acetylglucosaminyltransferase subunit
|
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
|
ALG6
|
ALG6, alpha-1,3-glucosyltransferase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
ALX3
|
ALX homeobox 3
|
|
ALX4
|
ALX homeobox 4
|
|
AMACR
|
alpha-methylacyl-CoA racemase
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
AMPD2
|
adenosine monophosphate deaminase 2
|
|
AMT
|
aminomethyltransferase
|
|
ANK1
|
ankyrin 1, erythrocytic
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ANO10
|
anoctamin 10
|
|
ANOS1
|
anosmin 1
|
|
ANTXR1
|
anthrax toxin receptor 1
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
AP3B1
|
adaptor-related protein complex 3, beta 1 subunit
|
|
AP4B1
|
adaptor-related protein complex 4, beta 1 subunit
|
|
AP4E1
|
adaptor-related protein complex 4, epsilon 1 subunit
|
|
AP4M1
|
adaptor-related protein complex 4, mu 1 subunit
|
|
AP4S1
|
adaptor-related protein complex 4, sigma 1 subunit
|
|
APC
|
adenomatous polyposis coli
|
|
APOB
|
apolipoprotein B
|
|
APOE
|
apolipoprotein E
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
APTX
|
aprataxin
|
|
AR
|
androgen receptor
|
|
ARFGEF2
|
ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARMC5
|
armadillo repeat containing 5
|
|
ARNT2
|
aryl-hydrocarbon receptor nuclear translocator 2
|
|
ARSA
|
arylsulfatase A
|
|
ARSB
|
arylsulfatase B
|
|
ARSE
|
arylsulfatase E (chondrodysplasia punctata 1)
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ARX
|
aristaless related homeobox
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ASCL1
|
achaete-scute family bHLH transcription factor 1
|
|
ASL
|
argininosuccinate lyase
|
|
ASNS
|
asparagine synthetase (glutamine-hydrolyzing)
|
|
ASPA
|
aspartoacylase
|
|
ASPM
|
asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
|
|
ASS1
|
argininosuccinate synthase 1
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATCAY
|
ataxia, cerebellar, Cayman type
|
|
ATL1
|
atlastin GTPase 1
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATN1
|
atrophin 1
|
|
ATP10A
|
ATPase, class V, type 10A
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP2B3
|
ATPase, Ca++ transporting, plasma membrane 3
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATP8A2
|
ATPase, aminophospholipid transporter, class I, type 8A, member 2
|
|
ATPAF2
|
ATP synthase mitochondrial F1 complex assembly factor 2
|
|
ATR
|
ATR serine/threonine kinase
|
|
ATRIP
|
ATR interacting protein
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
ATXN1
|
ataxin 1
|
|
ATXN10
|
ataxin 10
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
ATXN7
|
ataxin 7
|
|
ATXN8
|
ataxin 8
|
|
ATXN8OS
|
ATXN8 opposite strand (non-protein coding)
|
|
AUH
|
AU RNA binding protein/enoyl-CoA hydratase
|
|
AVP
|
arginine vasopressin
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
B3GNT1
|
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 1
|
|
B4GALT1
|
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
|
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
BAP1
|
BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BBS10
|
Bardet-Biedl syndrome 10
|
|
BBS12
|
Bardet-Biedl syndrome 12
|
|
BBS2
|
Bardet-Biedl syndrome 2
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BBS5
|
Bardet-Biedl syndrome 5
|
|
BBS7
|
Bardet-Biedl syndrome 7
|
|
BBS9
|
Bardet-Biedl syndrome 9
|
|
BCAP31
|
B-cell receptor-associated protein 31
|
|
BCKDHA
|
branched chain keto acid dehydrogenase E1, alpha polypeptide
|
|
BCKDHB
|
branched chain keto acid dehydrogenase E1, beta polypeptide
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BCL6
|
B-cell CLL/lymphoma 6
|
|
BCOR
|
BCL6 corepressor
|
|
BCR
|
breakpoint cluster region
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BEAN1
|
brain expressed, associated with NEDD4, 1
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BLNK
|
B-cell linker
|
|
BMP15
|
bone morphogenetic protein 15
|
|
BMP2
|
bone morphogenetic protein 2
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BMPER
|
BMP binding endothelial regulator
|
|
BMS1
|
BMS1 ribosome biogenesis factor
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRAT1
|
BRCA1-associated ATM activator 1
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
BTD
|
biotinidase
|
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
|
BUB1
|
BUB1 mitotic checkpoint serine/threonine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
BUB3
|
BUB3 mitotic checkpoint protein
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
C2CD3
|
C2 calcium-dependent domain containing 3
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
C5
|
complement component 5
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
C8A
|
complement component 8, alpha polypeptide
|
|
C8B
|
complement component 8, beta polypeptide
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CA2
|
carbonic anhydrase II
|
|
CA8
|
carbonic anhydrase VIII
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNB4
|
calcium channel, voltage-dependent, beta 4 subunit
|
|
CALR
|
calreticulin
|
|
CAMTA1
|
calmodulin binding transcription activator 1
|
|
CARD9
|
caspase recruitment domain family, member 9
|
|
CASC5
|
cancer susceptibility candidate 5
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CASR
|
calcium-sensing receptor
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CBS
|
cystathionine-beta-synthase
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CCDC8
|
coiled-coil domain containing 8
|
|
CCDC88C
|
coiled-coil domain containing 88C
|
|
CCM2
|
cerebral cavernous malformation 2
|
|
CCND2
|
cyclin D2
|
|
CCT5
|
chaperonin containing TCP1, subunit 5 (epsilon)
|
|
CD59
|
CD59 molecule, complement regulatory protein
|
|
CD79A
|
CD79a molecule, immunoglobulin-associated alpha
|
|
CD79B
|
CD79b molecule, immunoglobulin-associated beta
|
|
CD96
|
CD96 molecule
|
|
CDC6
|
cell division cycle 6
|
|
CDH23
|
cadherin-related 23
|
|
CDK5RAP2
|
CDK5 regulatory subunit associated protein 2
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CDKN1B
|
cyclin-dependent kinase inhibitor 1B (p27, Kip1)
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CDON
|
cell adhesion associated, oncogene regulated
|
|
CDR3
|
Cerebellar degeneration-related autoantigen-3
|
|
CDT1
|
chromatin licensing and DNA replication factor 1
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CENPJ
|
centromere protein J
|
|
CEP135
|
centrosomal protein 135kDa
|
|
CEP152
|
centrosomal protein 152kDa
|
|
CEP164
|
centrosomal protein 164kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CEP63
|
centrosomal protein 63kDa
|
|
CEP83
|
centrosomal protein 83kDa
|
|
CFI
|
complement factor I
|
|
CHCHD10
|
coiled-coil-helix-coiled-coil-helix domain containing 10
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHEK2
|
checkpoint kinase 2
|
|
CHKB
|
choline kinase beta
|
|
CHL1
|
cell adhesion molecule L1-like
|
|
CHMP1A
|
charged multivesicular body protein 1A
|
|
CHMP2B
|
charged multivesicular body protein 2B
|
|
CHN1
|
chimerin 1
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRNA7
|
cholinergic receptor, nicotinic, alpha 7 (neuronal)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
CHUK
|
conserved helix-loop-helix ubiquitous kinase
|
|
CIB2
|
calcium and integrin binding family member 2
|
|
CIITA
|
class II, major histocompatibility complex, transactivator
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLCN2
|
chloride channel, voltage-sensitive 2
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLIC2
|
chloride intracellular channel 2
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CLN5
|
ceroid-lipofuscinosis, neuronal 5
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
|
CLP1
|
cleavage and polyadenylation factor I subunit 1
|
|
CLPP
|
caseinolytic mitochondrial matrix peptidase proteolytic subunit
|
|
CNBP
|
CCHC-type zinc finger, nucleic acid binding protein
|
|
CNTN4
|
contactin 4
|
|
COA5
|
cytochrome c oxidase assembly factor 5
|
|
COG1
|
component of oligomeric golgi complex 1
|
|
COG4
|
component of oligomeric golgi complex 4
|
|
COG5
|
component of oligomeric golgi complex 5
|
|
COG6
|
component of oligomeric golgi complex 6
|
|
COG8
|
component of oligomeric golgi complex 8
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL4A2
|
collagen, type IV, alpha 2
|
|
COMP
|
cartilage oligomeric matrix protein
|
|
COMT
|
catechol-O-methyltransferase
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
COQ9
|
coenzyme Q9
|
|
COX1
|
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX14
|
COX14 cytochrome c oxidase assembly factor
|
|
COX15
|
cytochrome c oxidase assembly homolog 15 (yeast)
|
|
COX2
|
|
|
COX20
|
COX20 cytochrome c oxidase assembly factor
|
|
COX3
|
|
|
COX6B1
|
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CPS1
|
carbamoyl-phosphate synthase 1, mitochondrial
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRBN
|
cereblon
|
|
CREBBP
|
CREB binding protein
|
|
CRH
|
corticotropin releasing hormone
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CRX
|
cone-rod homeobox
|
|
CSF1R
|
colony stimulating factor 1 receptor
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
CST3
|
cystatin C
|
|
CSTB
|
cystatin B (stefin B)
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTCF
|
CCCTC-binding factor (zinc finger protein)
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CTNND2
|
catenin (cadherin-associated protein), delta 2
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CTSC
|
cathepsin C
|
|
CTSD
|
cathepsin D
|
|
CTSF
|
cathepsin F
|
|
CTSK
|
cathepsin K
|
|
CUL4B
|
cullin 4B
|
|
CUL7
|
cullin 7
|
|
CYB5R3
|
cytochrome b5 reductase 3
|
|
CYBA
|
cytochrome b-245, alpha polypeptide
|
|
CYBB
|
cytochrome b-245, beta polypeptide
|
|
CYFIP1
|
cytoplasmic FMR1 interacting protein 1
|
|
CYP11A1
|
cytochrome P450, family 11, subfamily A, polypeptide 1
|
|
CYP26B1
|
cytochrome P450, family 26, subfamily B, polypeptide 1
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
CYP2U1
|
cytochrome P450, family 2, subfamily U, polypeptide 1
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
D2HGDH
|
D-2-hydroxyglutarate dehydrogenase
|
|
DACT1
|
dishevelled-binding antagonist of beta-catenin 1
|
|
DARS
|
aspartyl-tRNA synthetase
|
|
DARS2
|
aspartyl-tRNA synthetase 2, mitochondrial
|
|
DBT
|
dihydrolipoamide branched chain transacylase E2
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DCHS1
|
dachsous cadherin-related 1
|
|
DCX
|
doublecortin
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
DDHD2
|
DDHD domain containing 2
|
|
DDR2
|
discoidin domain receptor tyrosine kinase 2
|
|
DDX11
|
DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
|
|
DDX59
|
DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
|
|
DFNB31
|
deafness, autosomal recessive 31
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHFR
|
dihydrofolate reductase
|
|
DICER1
|
dicer 1, ribonuclease type III
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DLAT
|
dihydrolipoamide S-acetyltransferase
|
|
DLD
|
dihydrolipoamide dehydrogenase
|
|
DLL3
|
delta-like 3 (Drosophila)
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNA2
|
DNA replication helicase/nuclease 2
|
|
DNAI1
|
dynein, axonemal, intermediate chain 1
|
|
DNAJC19
|
DnaJ (Hsp40) homolog, subfamily C, member 19
|
|
DNAJC5
|
DnaJ (Hsp40) homolog, subfamily C, member 5
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
DNM1L
|
dynamin 1-like
|
|
DNMT1
|
DNA (cytosine-5-)-methyltransferase 1
|
|
DNMT3B
|
DNA (cytosine-5-)-methyltransferase 3 beta
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DOCK7
|
dedicator of cytokinesis 7
|
|
DOCK8
|
dedicator of cytokinesis 8
|
|
DOK7
|
docking protein 7
|
|
DOLK
|
dolichol kinase
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
DPM2
|
dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
|
|
DPP6
|
dipeptidyl-peptidase 6
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DPYS
|
dihydropyrimidinase
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
DYM
|
dymeclin
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
DYRK1A
|
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
|
|
DYRK1B
|
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B
|
|
EARS2
|
glutamyl-tRNA synthetase 2, mitochondrial
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
ECM1
|
extracellular matrix protein 1
|
|
EDA
|
ectodysplasin A
|
|
EDA2R
|
ectodysplasin A2 receptor
|
|
EDN3
|
endothelin 3
|
|
EDNRB
|
endothelin receptor type B
|
|
EEF2
|
eukaryotic translation elongation factor 2
|
|
EFEMP2
|
EGF containing fibulin-like extracellular matrix protein 2
|
|
EFNB1
|
ephrin-B1
|
|
EFTUD2
|
elongation factor Tu GTP binding domain containing 2
|
|
EGR2
|
early growth response 2
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
EIF2B1
|
eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
|
|
EIF2B2
|
eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
|
|
EIF2B3
|
eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
|
|
EIF2B4
|
eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
|
|
EIF2B5
|
eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
|
|
EIF4G1
|
eukaryotic translation initiation factor 4 gamma, 1
|
|
ELAC2
|
elaC ribonuclease Z 2
|
|
ELN
|
elastin
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
ELOVL5
|
ELOVL fatty acid elongase 5
|
|
ELP4
|
elongator acetyltransferase complex subunit 4
|
|
EMG1
|
EMG1 N1-specific pseudouridine methyltransferase
|
|
EMX2
|
empty spiracles homeobox 2
|
|
ENG
|
endoglin
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
EP300
|
E1A binding protein p300
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
EPHX1
|
epoxide hydrolase 1, microsomal (xenobiotic)
|
|
EPOR
|
erythropoietin receptor
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC5
|
excision repair cross-complementation group 5
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC6L2
|
excision repair cross-complementation group 6-like 2
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ERF
|
Ets2 repressor factor
|
|
ERLIN2
|
ER lipid raft associated 2
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
ETFA
|
electron-transfer-flavoprotein, alpha polypeptide
|
|
ETFB
|
electron-transfer-flavoprotein, beta polypeptide
|
|
ETFDH
|
electron-transferring-flavoprotein dehydrogenase
|
|
ETHE1
|
ethylmalonic encephalopathy 1
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
EXOSC3
|
exosome component 3
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EXT2
|
exostosin glycosyltransferase 2
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
F10
|
coagulation factor X
|
|
F13A1
|
coagulation factor XIII, A1 polypeptide
|
|
F7
|
coagulation factor VII (serum prothrombin conversion accelerator)
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FADD
|
Fas (TNFRSF6)-associated via death domain
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAM126A
|
family with sequence similarity 126, member A
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FAM58A
|
family with sequence similarity 58, member A
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FANCF
|
Fanconi anemia, complementation group F
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FANCI
|
Fanconi anemia, complementation group I
|
|
FANCL
|
Fanconi anemia, complementation group L
|
|
FANCM
|
Fanconi anemia, complementation group M
|
|
FARS2
|
phenylalanyl-tRNA synthetase 2, mitochondrial
|
|
FASTKD2
|
FAST kinase domains 2
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBN1
|
fibrillin 1
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGA
|
fibrinogen alpha chain
|
|
FGB
|
fibrinogen beta chain
|
|
FGF14
|
fibroblast growth factor 14
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FGG
|
fibrinogen gamma chain
|
|
FH
|
fumarate hydratase
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FLRT3
|
fibronectin leucine rich transmembrane protein 3
|
|
FLVCR2
|
feline leukemia virus subgroup C cellular receptor family, member 2
|
|
FMR1
|
fragile X mental retardation 1
|
|
FN1
|
fibronectin 1
|
|
FNBP4
|
formin binding protein 4
|
|
FOLR1
|
folate receptor 1 (adult)
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
FOXC1
|
forkhead box C1
|
|
FOXC2
|
forkhead box C2
|
|
FOXG1
|
forkhead box G1
|
|
FOXL2
|
forkhead box L2
|
|
FOXP2
|
forkhead box P2
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM1
|
FRAS1 related extracellular matrix 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
FSHR
|
follicle stimulating hormone receptor
|
|
FTL
|
ferritin, light polypeptide
|
|
FTO
|
fat mass and obesity associated
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
FUS
|
FUS RNA binding protein
|
|
FUZ
|
fuzzy planar cell polarity protein
|
|
FXN
|
frataxin
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
GAA
|
glucosidase, alpha; acid
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GAD1
|
glutamate decarboxylase 1 (brain, 67kDa)
|
|
GALC
|
galactosylceramidase
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GALNTL5
|
polypeptide N-acetylgalactosaminyltransferase-like 5
|
|
GAMT
|
guanidinoacetate N-methyltransferase
|
|
GAN
|
gigaxonin
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GATA2
|
GATA binding protein 2
|
|
GATA4
|
GATA binding protein 4
|
|
GATA6
|
GATA binding protein 6
|
|
GBA
|
glucosidase, beta, acid
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GCLC
|
glutamate-cysteine ligase, catalytic subunit
|
|
GCM2
|
glial cells missing homolog 2 (Drosophila)
|
|
GCSH
|
glycine cleavage system protein H (aminomethyl carrier)
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GDF1
|
growth differentiation factor 1
|
|
GDF2
|
growth differentiation factor 2
|
|
GDF3
|
growth differentiation factor 3
|
|
GDF6
|
growth differentiation factor 6
|
|
GDNF
|
glial cell derived neurotrophic factor
|
|
GFAP
|
glial fibrillary acidic protein
|
|
GFM1
|
G elongation factor, mitochondrial 1
|
|
GH1
|
growth hormone 1
|
|
GHRHR
|
growth hormone releasing hormone receptor
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB3
|
gap junction protein, beta 3, 31kDa
|
|
GJB4
|
gap junction protein, beta 4, 30.3kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GLA
|
galactosidase, alpha
|
|
GLB1
|
galactosidase, beta 1
|
|
GLDC
|
glycine dehydrogenase (decarboxylating)
|
|
GLI2
|
GLI family zinc finger 2
|
|
GLI3
|
GLI family zinc finger 3
|
|
GLUL
|
glutamate-ammonia ligase
|
|
GLYCTK
|
glycerate kinase
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNAO1
|
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GNAS
|
GNAS complex locus
|
|
GNPAT
|
glyceronephosphate O-acyltransferase
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GOSR2
|
golgi SNAP receptor complex member 2
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GPI
|
glucose-6-phosphate isomerase
|
|
GPSM2
|
G-protein signaling modulator 2
|
|
GPX4
|
glutathione peroxidase 4
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
GRN
|
granulin
|
|
GSS
|
glutathione synthetase
|
|
GTF2H5
|
general transcription factor IIH, polypeptide 5
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUCY1A3
|
guanylate cyclase 1, soluble, alpha 3
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
GUSB
|
glucuronidase, beta
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HARS
|
histidyl-tRNA synthetase
|
|
HARS2
|
histidyl-tRNA synthetase 2, mitochondrial
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HBB
|
hemoglobin, beta
|
|
HCCS
|
holocytochrome c synthase
|
|
HCFC1
|
host cell factor C1
|
|
HCN1
|
hyperpolarization activated cyclic nucleotide gated potassium channel 1
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC6
|
histone deacetylase 6
|
|
HDAC8
|
histone deacetylase 8
|
|
HEPACAM
|
hepatic and glial cell adhesion molecule
|
|
HES7
|
hes family bHLH transcription factor 7
|
|
HESX1
|
HESX homeobox 1
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
HFM1
|
HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)
|
|
HHAT
|
hedgehog acyltransferase
|
|
HIBCH
|
3-hydroxyisobutyryl-CoA hydrolase
|
|
HIC1
|
hypermethylated in cancer 1
|
|
HIRA
|
histone cell cycle regulator
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DPB1
|
major histocompatibility complex, class II, DP beta 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
HMGB3
|
high mobility group box 3
|
|
HNF1B
|
HNF1 homeobox B
|
|
HOXA1
|
homeobox A1
|
|
HOXD13
|
homeobox D13
|
|
HPGD
|
hydroxyprostaglandin dehydrogenase 15-(NAD)
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HS6ST1
|
heparan sulfate 6-O-sulfotransferase 1
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
HTRA1
|
HtrA serine peptidase 1
|
|
HTT
|
huntingtin
|
|
HUWE1
|
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
IBA57
|
IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
|
|
ICK
|
intestinal cell (MAK-like) kinase
|
|
IDS
|
iduronate 2-sulfatase
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IER3IP1
|
immediate early response 3 interacting protein 1
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT27
|
intraflagellar transport 27
|
|
IFT80
|
intraflagellar transport 80
|
|
IGBP1
|
immunoglobulin (CD79A) binding protein 1
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IGF1R
|
insulin-like growth factor 1 receptor
|
|
IGF2
|
insulin-like growth factor 2
|
|
IGHM
|
immunoglobulin heavy constant mu
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
IGLL1
|
immunoglobulin lambda-like polypeptide 1
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IL10
|
interleukin 10
|
|
IL12B
|
interleukin 12B
|
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
|
IL17RD
|
interleukin 17 receptor D
|
|
IL23R
|
interleukin 23 receptor
|
|
IL2RG
|
interleukin 2 receptor, gamma
|
|
IMPAD1
|
inositol monophosphatase domain containing 1
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
INSR
|
insulin receptor
|
|
IQCB1
|
IQ motif containing B1
|
|
IRF6
|
interferon regulatory factor 6
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
ITGA2B
|
integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
ITM2B
|
integral membrane protein 2B
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
IVD
|
isovaleryl-CoA dehydrogenase
|
|
JAG1
|
jagged 1
|
|
JAK2
|
Janus kinase 2
|
|
JAK3
|
Janus kinase 3
|
|
JAM3
|
junctional adhesion molecule 3
|
|
KANK1
|
KN motif and ankyrin repeat domains 1
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNC3
|
potassium channel, voltage gated Shaw related subfamily C, member 3
|
|
KCND3
|
potassium channel, voltage gated Shal related subfamily D, member 3
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KCNJ13
|
potassium channel, inwardly rectifying subfamily J, member 13
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KCNQ1OT1
|
KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
KCNT1
|
potassium channel, sodium activated subfamily T, member 1
|
|
KCTD7
|
potassium channel tetramerization domain containing 7
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIAA0196
|
KIAA0196
|
|
KIAA0226
|
KIAA0226
|
|
KIAA2022
|
KIAA2022
|
|
KIF11
|
kinesin family member 11
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF1B
|
kinesin family member 1B
|
|
KIF1BP
|
KIF1 binding protein
|
|
KIF1C
|
kinesin family member 1C
|
|
KIF22
|
kinesin family member 22
|
|
KIF2A
|
kinesin heavy chain member 2A
|
|
KIF5C
|
kinesin family member 5C
|
|
KIF7
|
kinesin family member 7
|
|
KISS1R
|
KISS1 receptor
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRIT1
|
KRIT1, ankyrin repeat containing
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
L2HGDH
|
L-2-hydroxyglutarate dehydrogenase
|
|
LAMA1
|
laminin, alpha 1
|
|
LAMA2
|
laminin, alpha 2
|
|
LAMB1
|
laminin, beta 1
|
|
LARGE
|
like-glycosyltransferase
|
|
LARP7
|
La ribonucleoprotein domain family, member 7
|
|
LARS2
|
leucyl-tRNA synthetase 2, mitochondrial
|
|
LBR
|
lamin B receptor
|
|
LCA5
|
Leber congenital amaurosis 5
|
|
LEMD3
|
LEM domain containing 3
|
|
LEPR
|
leptin receptor
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LFNG
|
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
|
|
LHCGR
|
luteinizing hormone/choriogonadotropin receptor
|
|
LHX1
|
LIM homeobox 1
|
|
LHX3
|
LIM homeobox 3
|
|
LHX4
|
LIM homeobox 4
|
|
LIAS
|
lipoic acid synthetase
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LIMK1
|
LIM domain kinase 1
|
|
LINS
|
lines homolog (Drosophila)
|
|
LMNB1
|
lamin B1
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LRPPRC
|
leucine-rich pentatricopeptide repeat containing
|
|
LRRC8A
|
leucine rich repeat containing 8 family, member A
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
LTC4S
|
leukotriene C4 synthase
|
|
LYRM7
|
LYR motif containing 7
|
|
LYST
|
lysosomal trafficking regulator
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MAPT
|
microtubule-associated protein tau
|
|
MARS2
|
methionyl-tRNA synthetase 2, mitochondrial
|
|
MASP1
|
mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
|
|
MAT1A
|
methionine adenosyltransferase I, alpha
|
|
MATR3
|
matrin 3
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MCCC1
|
methylcrotonoyl-CoA carboxylase 1 (alpha)
|
|
MCCC2
|
methylcrotonoyl-CoA carboxylase 2 (beta)
|
|
MCM4
|
minichromosome maintenance complex component 4
|
|
MCOLN1
|
mucolipin 1
|
|
MCPH1
|
microcephalin 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MED17
|
mediator complex subunit 17
|
|
MEF2C
|
myocyte enhancer factor 2C
|
|
MEFV
|
Mediterranean fever
|
|
MEIS2
|
Meis homeobox 2
|
|
MEN1
|
multiple endocrine neoplasia I
|
|
MEOX1
|
mesenchyme homeobox 1
|
|
MESP2
|
mesoderm posterior basic helix-loop-helix transcription factor 2
|
|
MFSD8
|
major facilitator superfamily domain containing 8
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MGME1
|
mitochondrial genome maintenance exonuclease 1
|
|
MGP
|
matrix Gla protein
|
|
MID1
|
midline 1
|
|
MIPOL1
|
mirror-image polydactyly 1
|
|
MIR17HG
|
miR-17-92 cluster host gene
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MLC1
|
megalencephalic leukoencephalopathy with subcortical cysts 1
|
|
MLH1
|
mutL homolog 1
|
|
MLX
|
MLX, MAX dimerization protein
|
|
MLYCD
|
malonyl-CoA decarboxylase
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MMADHC
|
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
|
|
MN1
|
meningioma (disrupted in balanced translocation) 1
|
|
MNX1
|
motor neuron and pancreas homeobox 1
|
|
MOCS1
|
molybdenum cofactor synthesis 1
|
|
MOCS2
|
molybdenum cofactor synthesis 2
|
|
MOGS
|
mannosyl-oligosaccharide glucosidase
|
|
MPC1
|
mitochondrial pyruvate carrier 1
|
|
MPDZ
|
multiple PDZ domain protein
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MPLKIP
|
M-phase specific PLK1 interacting protein
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MPZ
|
myelin protein zero
|
|
MRE11A
|
MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
|
|
MRPS16
|
mitochondrial ribosomal protein S16
|
|
MRPS22
|
mitochondrial ribosomal protein S22
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MSX2
|
msh homeobox 2
|
|
MT-ATP8
|
ATP synthase F0 subunit 8
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MT-TF
|
tRNA
|
|
MT-TH
|
tRNA
|
|
MT-TK
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MTFMT
|
mitochondrial methionyl-tRNA formyltransferase
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTM1
|
myotubularin 1
|
|
MTR
|
5-methyltetrahydrofolate-homocysteine methyltransferase
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
MTTP
|
microsomal triglyceride transfer protein
|
|
MUC1
|
mucin 1, cell surface associated
|
|
MUT
|
methylmalonyl CoA mutase
|
|
MVK
|
mevalonate kinase
|
|
MYCN
|
v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
|
|
MYD88
|
myeloid differentiation primary response 88
|
|
MYH11
|
myosin, heavy chain 11, smooth muscle
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYO5A
|
myosin VA (heavy chain 12, myoxin)
|
|
MYO7A
|
myosin VIIA
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NALCN
|
sodium leak channel, non selective
|
|
NAT8L
|
N-acetyltransferase 8-like (GCN5-related, putative)
|
|
NBN
|
nibrin
|
|
NCF1
|
neutrophil cytosolic factor 1
|
|
NCF2
|
neutrophil cytosolic factor 2
|
|
NCF4
|
neutrophil cytosolic factor 4, 40kDa
|
|
ND1
|
|
|
NDE1
|
nudE neurodevelopment protein 1
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NDUFA1
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
|
|
NDUFA10
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
|
|
NDUFA11
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
|
|
NDUFA12
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
|
|
NDUFA2
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
|
|
NDUFA9
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
|
|
NDUFAF1
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
|
|
NDUFAF2
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
|
|
NDUFAF3
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
|
|
NDUFAF4
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
|
|
NDUFAF5
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
|
|
NDUFAF6
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
|
|
NDUFB3
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
|
|
NDUFB9
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
|
|
NDUFS1
|
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
|
|
NDUFS2
|
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
|
|
NDUFS3
|
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
|
|
NDUFS4
|
NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
|
|
NDUFS6
|
NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
|
|
NDUFS7
|
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
|
|
NDUFS8
|
NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
|
|
NDUFV1
|
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
|
|
NDUFV2
|
NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
|
|
NEK1
|
NIMA-related kinase 1
|
|
NELFA
|
negative elongation factor complex member A
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NF1
|
neurofibromin 1
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NHEJ1
|
nonhomologous end-joining factor 1
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NIN
|
ninein (GSK3B interacting protein)
|
|
NIPA1
|
non imprinted in Prader-Willi/Angelman syndrome 1
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NME1
|
NME/NM23 nucleoside diphosphate kinase 1
|
|
NMNAT1
|
nicotinamide nucleotide adenylyltransferase 1
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NOP56
|
NOP56 ribonucleoprotein
|
|
NOTCH1
|
notch 1
|
|
NOTCH2
|
notch 2
|
|
NOTCH3
|
notch 3
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NR5A1
|
nuclear receptor subfamily 5, group A, member 1
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
NSMF
|
NMDA receptor synaptonuclear signaling and neuronal migration factor
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
NT5C2
|
5'-nucleotidase, cytosolic II
|
|
NTNG1
|
netrin G1
|
|
NUBPL
|
nucleotide binding protein-like
|
|
OBSL1
|
obscurin-like 1
|
|
OCA2
|
oculocutaneous albinism II
|
|
OCLN
|
occludin
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OGDH
|
oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
OPA3
|
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
|
|
OPHN1
|
oligophrenin 1
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
ORC4
|
origin recognition complex, subunit 4
|
|
ORC6
|
origin recognition complex, subunit 6
|
|
OSTM1
|
osteopetrosis associated transmembrane protein 1
|
|
OTC
|
ornithine carbamoyltransferase
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PAH
|
phenylalanine hydroxylase
|
|
PAK3
|
p21 protein (Cdc42/Rac)-activated kinase 3
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PANK2
|
pantothenate kinase 2
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PAX2
|
paired box 2
|
|
PAX3
|
paired box 3
|
|
PAX6
|
paired box 6
|
|
PAX8
|
paired box 8
|
|
PC
|
pyruvate carboxylase
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PCDH15
|
protocadherin-related 15
|
|
PCK1
|
phosphoenolpyruvate carboxykinase 1 (soluble)
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PCNT
|
pericentrin
|
|
PDCD10
|
programmed cell death 10
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PDE8B
|
phosphodiesterase 8B
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PDHX
|
pyruvate dehydrogenase complex, component X
|
|
PDP1
|
pyruvate dehyrogenase phosphatase catalytic subunit 1
|
|
PDYN
|
prodynorphin
|
|
PDZD7
|
PDZ domain containing 7
|
|
PET100
|
PET100 homolog (S. cerevisiae)
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX10
|
peroxisomal biogenesis factor 10
|
|
PEX11B
|
peroxisomal biogenesis factor 11 beta
|
|
PEX12
|
peroxisomal biogenesis factor 12
|
|
PEX13
|
peroxisomal biogenesis factor 13
|
|
PEX14
|
peroxisomal biogenesis factor 14
|
|
PEX16
|
peroxisomal biogenesis factor 16
|
|
PEX19
|
peroxisomal biogenesis factor 19
|
|
PEX2
|
peroxisomal biogenesis factor 2
|
|
PEX26
|
peroxisomal biogenesis factor 26
|
|
PEX3
|
peroxisomal biogenesis factor 3
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PEX6
|
peroxisomal biogenesis factor 6
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PFN1
|
profilin 1
|
|
PGAP1
|
post-GPI attachment to proteins 1
|
|
PGAP2
|
post-GPI attachment to proteins 2
|
|
PGAP3
|
post-GPI attachment to proteins 3
|
|
PGK1
|
phosphoglycerate kinase 1
|
|
PGM3
|
phosphoglucomutase 3
|
|
PHC1
|
polyhomeotic homolog 1 (Drosophila)
|
|
PHEX
|
phosphate regulating endopeptidase homolog, X-linked
|
|
PHF6
|
PHD finger protein 6
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
PIGO
|
phosphatidylinositol glycan anchor biosynthesis, class O
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
|
PIK3R5
|
phosphoinositide-3-kinase, regulatory subunit 5
|
|
PITX2
|
paired-like homeodomain 2
|
|
PKD1
|
polycystic kidney disease 1 (autosomal dominant)
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLG
|
plasminogen
|
|
PLOD3
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
|
|
PLP1
|
proteolipid protein 1
|
|
PMM2
|
phosphomannomutase 2
|
|
PMP22
|
peripheral myelin protein 22
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PNKP
|
polynucleotide kinase 3'-phosphatase
|
|
PNP
|
purine nucleoside phosphorylase
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
PNPO
|
pyridoxamine 5'-phosphate oxidase
|
|
POC1A
|
POC1 centriolar protein A
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
|
POLR3B
|
polymerase (RNA) III (DNA directed) polypeptide B
|
|
POMC
|
proopiomelanocortin
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMGNT2
|
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
|
|
POMK
|
protein-O-mannose kinase
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
POU1F1
|
POU class 1 homeobox 1
|
|
PPP2R2B
|
protein phosphatase 2, regulatory subunit B, beta
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRDM16
|
PR domain containing 16
|
|
PRF1
|
perforin 1 (pore forming protein)
|
|
PRICKLE1
|
prickle homolog 1 (Drosophila)
|
|
PRICKLE2
|
prickle homolog 2 (Drosophila)
|
|
PRKAG2
|
protein kinase, AMP-activated, gamma 2 non-catalytic subunit
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRKCA
|
protein kinase C, alpha
|
|
PRKCG
|
protein kinase C, gamma
|
|
PRKRA
|
protein kinase, interferon-inducible double stranded RNA dependent activator
|
|
PRNP
|
prion protein
|
|
PROC
|
protein C (inactivator of coagulation factors Va and VIIIa)
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PROP1
|
PROP paired-like homeobox 1
|
|
PROS1
|
protein S (alpha)
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRRX1
|
paired related homeobox 1
|
|
PRTN3
|
proteinase 3
|
|
PRX
|
periaxin
|
|
PSAP
|
prosaposin
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
PSEN1
|
presenilin 1
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PSMC3IP
|
PSMC3 interacting protein
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTF1A
|
pancreas specific transcription factor, 1a
|
|
PTH
|
parathyroid hormone
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
|
PUF60
|
poly-U binding splicing factor 60KDa
|
|
PUS1
|
pseudouridylate synthase 1
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
QARS
|
glutaminyl-tRNA synthetase
|
|
QDPR
|
quinoid dihydropteridine reductase
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAB27A
|
RAB27A, member RAS oncogene family
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAB40AL
|
RAB40A, member RAS oncogene family-like
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAD50
|
RAD50 homolog (S. cerevisiae)
|
|
RAD51C
|
RAD51 paralog C
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAG1
|
recombination activating gene 1
|
|
RAG2
|
recombination activating gene 2
|
|
RAI1
|
retinoic acid induced 1
|
|
RANBP2
|
RAN binding protein 2
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RARS2
|
arginyl-tRNA synthetase 2, mitochondrial
|
|
RB1
|
retinoblastoma 1
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RBM10
|
RNA binding motif protein 10
|
|
RBM28
|
RNA binding motif protein 28
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
RD3
|
retinal degeneration 3
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RECQL4
|
RecQ protein-like 4
|
|
RELN
|
reelin
|
|
REN
|
renin
|
|
RET
|
ret proto-oncogene
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RFX5
|
regulatory factor X, 5 (influences HLA class II expression)
|
|
RFXANK
|
regulatory factor X-associated ankyrin-containing protein
|
|
RFXAP
|
regulatory factor X-associated protein
|
|
RIPK4
|
receptor-interacting serine-threonine kinase 4
|
|
RMND1
|
required for meiotic nuclear division 1 homolog (S. cerevisiae)
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNASEH2A
|
ribonuclease H2, subunit A
|
|
RNASEH2B
|
ribonuclease H2, subunit B
|
|
RNASEH2C
|
ribonuclease H2, subunit C
|
|
RNASET2
|
ribonuclease T2
|
|
RNF168
|
ring finger protein 168, E3 ubiquitin protein ligase
|
|
RNF213
|
ring finger protein 213
|
|
RNF216
|
ring finger protein 216
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
ROGDI
|
rogdi homolog (Drosophila)
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RPIA
|
ribose 5-phosphate isomerase A
|
|
RPS19
|
ribosomal protein S19
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
RTTN
|
rotatin
|
|
RUNX1
|
runt-related transcription factor 1
|
|
RUNX2
|
runt-related transcription factor 2
|
|
SACS
|
sacsin molecular chaperone
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SAMHD1
|
SAM domain and HD domain 1
|
|
SATB2
|
SATB homeobox 2
|
|
SC5D
|
sterol-C5-desaturase
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SCARF2
|
scavenger receptor class F, member 2
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
|
SCNN1B
|
sodium channel, non voltage gated 1 beta subunit
|
|
SCNN1G
|
sodium channel, non voltage gated 1 gamma subunit
|
|
SCO2
|
SCO2 cytochrome c oxidase assembly protein
|
|
SCP2
|
sterol carrier protein 2
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHAF1
|
succinate dehydrogenase complex assembly factor 1
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SECISBP2
|
SECIS binding protein 2
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SEMA5A
|
sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
|
|
SEPSECS
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
|
|
SERAC1
|
serine active site containing 1
|
|
SERPINI1
|
serpin peptidase inhibitor, clade I (neuroserpin), member 1
|
|
SETBP1
|
SET binding protein 1
|
|
SETX
|
senataxin
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SFXN4
|
sideroflexin 4
|
|
SH2B1
|
SH2B adaptor protein 1
|
|
SH2B3
|
SH2B adaptor protein 3
|
|
SH2D1A
|
SH2 domain containing 1A
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SHH
|
sonic hedgehog
|
|
SHOC2
|
soc-2 suppressor of clear homolog (C. elegans)
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SIM1
|
single-minded family bHLH transcription factor 1
|
|
SIX3
|
SIX homeobox 3
|
|
SIX6
|
SIX homeobox 6
|
|
SKI
|
SKI proto-oncogene
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC19A3
|
solute carrier family 19 (thiamine transporter), member 3
|
|
SLC1A3
|
solute carrier family 1 (glial high affinity glutamate transporter), member 3
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC25A1
|
solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
|
|
SLC25A13
|
solute carrier family 25 (aspartate/glutamate carrier), member 13
|
|
SLC25A15
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
|
|
SLC25A19
|
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
|
|
SLC25A22
|
solute carrier family 25 (mitochondrial carrier: glutamate), member 22
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
SLC2A3
|
solute carrier family 2 (facilitated glucose transporter), member 3
|
|
SLC33A1
|
solute carrier family 33 (acetyl-CoA transporter), member 1
|
|
SLC35A2
|
solute carrier family 35 (UDP-galactose transporter), member A2
|
|
SLC35A3
|
solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
|
|
SLC35C1
|
solute carrier family 35 (GDP-fucose transporter), member C1
|
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SLCO2A1
|
solute carrier organic anion transporter family, member 2A1
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMAD3
|
SMAD family member 3
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCA2
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
|
|
SMARCA4
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMARCE1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SNAI2
|
snail family zinc finger 2
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SNIP1
|
Smad nuclear interacting protein 1
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SNX10
|
sorting nexin 10
|
|
SNX3
|
sorting nexin 3
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SP110
|
SP110 nuclear body protein
|
|
SPAST
|
spastin
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
SPG21
|
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPR
|
sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
SPTAN1
|
spectrin, alpha, non-erythrocytic 1
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
SQSTM1
|
sequestosome 1
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
SRPX2
|
sushi-repeat containing protein, X-linked 2
|
|
SSTR5
|
somatostatin receptor 5
|
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
|
STAC3
|
SH3 and cysteine rich domain 3
|
|
STAG3
|
stromal antigen 3
|
|
STAMBP
|
STAM binding protein
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
STAT5B
|
signal transducer and activator of transcription 5B
|
|
STIL
|
SCL/TAL1 interrupting locus
|
|
STIM1
|
stromal interaction molecule 1
|
|
STS
|
steroid sulfatase (microsomal), isozyme S
|
|
STT3A
|
STT3A, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
STT3B
|
STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
STXBP1
|
syntaxin binding protein 1
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
SUCLG1
|
succinate-CoA ligase, alpha subunit
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
SUOX
|
sulfite oxidase
|
|
SURF1
|
surfeit 1
|
|
SYNGAP1
|
synaptic Ras GTPase activating protein 1
|
|
SYT14
|
synaptotagmin XIV
|
|
SZT2
|
seizure threshold 2 homolog (mouse)
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
|
TACR3
|
tachykinin receptor 3
|
|
TAF2
|
TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
|
|
TARS2
|
threonyl-tRNA synthetase 2, mitochondrial (putative)
|
|
TAT
|
tyrosine aminotransferase
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBC1D7
|
TBC1 domain family, member 7
|
|
TBCE
|
tubulin folding cofactor E
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBP
|
TATA box binding protein
|
|
TBX1
|
T-box 1
|
|
TBX15
|
T-box 15
|
|
TBX19
|
T-box 19
|
|
TBX2
|
T-box 2
|
|
TBX3
|
T-box 3
|
|
TBX4
|
T-box 4
|
|
TBX6
|
T-box 6
|
|
TCF3
|
transcription factor 3
|
|
TCF4
|
transcription factor 4
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TCN2
|
transcobalamin II
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TCTN1
|
tectonic family member 1
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TDP1
|
tyrosyl-DNA phosphodiesterase 1
|
|
TECPR2
|
tectonin beta-propeller repeat containing 2
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TET2
|
tet methylcytosine dioxygenase 2
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TFG
|
TRK-fused gene
|
|
TGFB2
|
transforming growth factor, beta 2
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TGIF1
|
TGFB-induced factor homeobox 1
|
|
TGM6
|
transglutaminase 6
|
|
TH
|
tyrosine hydroxylase
|
|
THOC6
|
THO complex 6
|
|
THPO
|
thrombopoietin
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TIMM8A
|
translocase of inner mitochondrial membrane 8 homolog A (yeast)
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TLR4
|
toll-like receptor 4
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM165
|
transmembrane protein 165
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM5
|
transmembrane protein 5
|
|
TMEM67
|
transmembrane protein 67
|
|
TMEM70
|
transmembrane protein 70
|
|
TNFRSF11A
|
tumor necrosis factor receptor superfamily, member 11a, NFKB activator
|
|
TNFRSF13B
|
tumor necrosis factor receptor superfamily, member 13B
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TNNI3
|
troponin I type 3 (cardiac)
|
|
TNXB
|
tenascin XB
|
|
TP53
|
tumor protein p53
|
|
TP63
|
tumor protein p63
|
|
TPK1
|
thiamin pyrophosphokinase 1
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TRAPPC11
|
trafficking protein particle complex 11
|
|
TRAPPC9
|
trafficking protein particle complex 9
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRH
|
thyrotropin-releasing hormone
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRIM37
|
tripartite motif containing 37
|
|
TRMT10A
|
tRNA methyltransferase 10 homolog A (S. cerevisiae)
|
|
TRNE
|
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TSEN2
|
TSEN2 tRNA splicing endonuclease subunit
|
|
TSEN34
|
TSEN34 tRNA splicing endonuclease subunit
|
|
TSEN54
|
TSEN54 tRNA splicing endonuclease subunit
|
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TTBK2
|
tau tubulin kinase 2
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TTI2
|
TELO2 interacting protein 2
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
TTR
|
transthyretin
|
|
TUBA1A
|
tubulin, alpha 1a
|
|
TUBA8
|
tubulin, alpha 8
|
|
TUBB
|
tubulin, beta class I
|
|
TUBB2A
|
tubulin, beta 2A class IIa
|
|
TUBB2B
|
tubulin, beta 2B class IIb
|
|
TUBB3
|
tubulin, beta 3 class III
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
TUBG1
|
tubulin, gamma 1
|
|
TUBGCP6
|
tubulin, gamma complex associated protein 6
|
|
TUFM
|
Tu translation elongation factor, mitochondrial
|
|
TULP1
|
tubby like protein 1
|
|
TYMP
|
thymidine phosphorylase
|
|
TYR
|
tyrosinase
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
UBQLN2
|
ubiquilin 2
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
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UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
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UGT1A1
|
UDP glucuronosyltransferase 1 family, polypeptide A1
|
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UPB1
|
ureidopropionase, beta
|
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UPF3B
|
UPF3 regulator of nonsense transcripts homolog B (yeast)
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UQCRQ
|
ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
|
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UROC1
|
urocanate hydratase 1
|
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USB1
|
U6 snRNA biogenesis 1
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
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USH1G
|
Usher syndrome 1G (autosomal recessive)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
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VAMP1
|
vesicle-associated membrane protein 1 (synaptobrevin 1)
|
|
VANGL1
|
VANGL planar cell polarity protein 1
|
|
VANGL2
|
VANGL planar cell polarity protein 2
|
|
VAPB
|
VAMP (vesicle-associated membrane protein)-associated protein B and C
|
|
VARS2
|
valyl-tRNA synthetase 2, mitochondrial
|
|
VAX1
|
ventral anterior homeobox 1
|
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VCP
|
valosin containing protein
|
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VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
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VPS53
|
vacuolar protein sorting 53 homolog (S. cerevisiae)
|
|
VRK1
|
vaccinia related kinase 1
|
|
VSX1
|
visual system homeobox 1
|
|
VTI1A
|
vesicle transport through interaction with t-SNAREs 1A
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR11
|
WD repeat domain 11
|
|
WDR34
|
WD repeat domain 34
|
|
WDR35
|
WD repeat domain 35
|
|
WDR45
|
WD repeat domain 45
|
|
WDR60
|
WD repeat domain 60
|
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WDR62
|
WD repeat domain 62
|
|
WDR81
|
WD repeat domain 81
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
WIPF1
|
WAS/WASL interacting protein family, member 1
|
|
WNT1
|
wingless-type MMTV integration site family, member 1
|
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
WRAP53
|
WD repeat containing, antisense to TP53
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
|
WT1
|
Wilms tumor 1
|
|
WWOX
|
WW domain containing oxidoreductase
|
|
XPA
|
xeroderma pigmentosum, complementation group A
|
|
XPNPEP3
|
X-prolyl aminopeptidase 3, mitochondrial
|
|
YARS2
|
tyrosyl-tRNA synthetase 2, mitochondrial
|
|
YWHAE
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
|
|
ZBTB16
|
zinc finger and BTB domain containing 16
|
|
ZBTB18
|
zinc finger and BTB domain containing 18
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZBTB24
|
zinc finger and BTB domain containing 24
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZDHHC9
|
zinc finger, DHHC-type containing 9
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
|
ZIC2
|
Zic family member 2
|
|
ZIC3
|
Zic family member 3
|
|
ZNF335
|
zinc finger protein 335
|
|
ZNF423
|
zinc finger protein 423
|
|
ZNF592
|
zinc finger protein 592
|
|
ZSWIM6
|
zinc finger, SWIM-type containing 6
|
