| Symbol |
Name |
|
A2ML1
|
alpha-2-macroglobulin-like 1
|
|
AAGAB
|
alpha- and gamma-adaptin binding protein
|
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
AASS
|
aminoadipate-semialdehyde synthase
|
|
ABCA12
|
ATP-binding cassette, sub-family A (ABC1), member 12
|
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCC2
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 2
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
|
ABCD4
|
ATP-binding cassette, sub-family D (ALD), member 4
|
|
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
|
|
ACADVL
|
acyl-CoA dehydrogenase, very long chain
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACP5
|
acid phosphatase 5, tartrate resistant
|
|
ACSF3
|
acyl-CoA synthetase family member 3
|
|
ACSL4
|
acyl-CoA synthetase long-chain family member 4
|
|
ACTA2
|
actin, alpha 2, smooth muscle, aorta
|
|
ACTB
|
actin, beta
|
|
ACTG1
|
actin gamma 1
|
|
ACTG2
|
actin, gamma 2, smooth muscle, enteric
|
|
ACTN4
|
actinin, alpha 4
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
ADA
|
adenosine deaminase
|
|
ADAMTS13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13
|
|
ADCK4
|
aarF domain containing kinase 4
|
|
AGA
|
aspartylglucosaminidase
|
|
AGGF1
|
angiogenic factor with G patch and FHA domains 1
|
|
AGK
|
acylglycerol kinase
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AGT
|
angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
|
|
AGTR1
|
angiotensin II receptor, type 1
|
|
AGXT
|
alanine-glyoxylate aminotransferase
|
|
AHI1
|
Abelson helper integration site 1
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
AIRE
|
autoimmune regulator
|
|
AKR1C2
|
aldo-keto reductase family 1, member C2
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
AKT2
|
v-akt murine thymoma viral oncogene homolog 2
|
|
AKT3
|
v-akt murine thymoma viral oncogene homolog 3
|
|
ALDH4A1
|
aldehyde dehydrogenase 4 family, member A1
|
|
ALDOB
|
aldolase B, fructose-bisphosphate
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
ALG12
|
ALG12, alpha-1,6-mannosyltransferase
|
|
ALG8
|
ALG8, alpha-1,3-glucosyltransferase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ALOX12B
|
arachidonate 12-lipoxygenase, 12R type
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
ALX4
|
ALX homeobox 4
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
AMH
|
anti-Mullerian hormone
|
|
AMHR2
|
anti-Mullerian hormone receptor, type II
|
|
AMMECR1
|
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
|
|
AMN
|
amnion associated transmembrane protein
|
|
AMT
|
aminomethyltransferase
|
|
ANK1
|
ankyrin 1, erythrocytic
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ANKS6
|
ankyrin repeat and sterile alpha motif domain containing 6
|
|
ANOS1
|
anosmin 1
|
|
ANTXR1
|
anthrax toxin receptor 1
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
AP2S1
|
adaptor-related protein complex 2, sigma 1 subunit
|
|
AP5Z1
|
adaptor-related protein complex 5, zeta 1 subunit
|
|
APC
|
adenomatous polyposis coli
|
|
APOA1
|
apolipoprotein A-I
|
|
APOE
|
apolipoprotein E
|
|
APOL1
|
apolipoprotein L, 1
|
|
APRT
|
adenine phosphoribosyltransferase
|
|
AQP2
|
aquaporin 2 (collecting duct)
|
|
AR
|
androgen receptor
|
|
ARG1
|
arginase 1
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARHGDIA
|
Rho GDP dissociation inhibitor (GDI) alpha
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARL2BP
|
ADP-ribosylation factor-like 2 binding protein
|
|
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
|
|
ASL
|
argininosuccinate lyase
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATIC
|
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
|
|
ATL1
|
atlastin GTPase 1
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP5E
|
ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
|
|
ATP6V0A4
|
ATPase, H+ transporting, lysosomal V0 subunit a4
|
|
ATP6V1B1
|
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATPAF2
|
ATP synthase mitochondrial F1 complex assembly factor 2
|
|
ATR
|
ATR serine/threonine kinase
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
ATXN1
|
ataxin 1
|
|
ATXN10
|
ataxin 10
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
AUH
|
AU RNA binding protein/enoyl-CoA hydratase
|
|
AURKC
|
aurora kinase C
|
|
AVP
|
arginine vasopressin
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
AXIN1
|
axin 1
|
|
AXIN2
|
axin 2
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B3GNT1
|
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 1
|
|
B4GALT7
|
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
|
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
BAX
|
BCL2-associated X protein
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BBIP1
|
BBSome interacting protein 1
|
|
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
|
|
BCOR
|
BCL6 corepressor
|
|
BCR
|
breakpoint cluster region
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BEST1
|
bestrophin 1
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BMP15
|
bone morphogenetic protein 15
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BMPER
|
BMP binding endothelial regulator
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BMPR1B
|
bone morphogenetic protein receptor, type IB
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BRWD3
|
bromodomain and WD repeat domain containing 3
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
BSND
|
barttin CLCNK-type chloride channel accessory beta subunit
|
|
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
|
|
C1QA
|
complement component 1, q subcomponent, A chain
|
|
C1QB
|
complement component 1, q subcomponent, B chain
|
|
C1QC
|
complement component 1, q subcomponent, C chain
|
|
C1R
|
complement component 1, r subcomponent
|
|
C21ORF59
|
chromosome 21 open reading frame 59
|
|
C2CD3
|
C2 calcium-dependent domain containing 3
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
C3
|
complement component 3
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
C8ORF37
|
chromosome 8 open reading frame 37
|
|
CA2
|
carbonic anhydrase II
|
|
CA4
|
carbonic anhydrase IV
|
|
CACNA1D
|
calcium channel, voltage-dependent, L type, alpha 1D subunit
|
|
CAMKMT
|
calmodulin-lysine N-methyltransferase
|
|
CARD9
|
caspase recruitment domain family, member 9
|
|
CASP10
|
caspase 10, apoptosis-related cysteine peptidase
|
|
CASR
|
calcium-sensing receptor
|
|
CATSPER1
|
cation channel, sperm associated 1
|
|
CATSPER2
|
cation channel, sperm associated 2
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CBS
|
cystathionine-beta-synthase
|
|
CBX2
|
chromobox homolog 2
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CCDC39
|
coiled-coil domain containing 39
|
|
CCDC40
|
coiled-coil domain containing 40
|
|
CCDC8
|
coiled-coil domain containing 8
|
|
CCND2
|
cyclin D2
|
|
CCNO
|
cyclin O
|
|
CCR6
|
chemokine (C-C motif) receptor 6
|
|
CD151
|
CD151 molecule (Raph blood group)
|
|
CD2AP
|
CD2-associated protein
|
|
CD320
|
CD320 molecule
|
|
CD59
|
CD59 molecule, complement regulatory protein
|
|
CD96
|
CD96 molecule
|
|
CDC6
|
cell division cycle 6
|
|
CDC73
|
cell division cycle 73
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
CDHR1
|
cadherin-related family member 1
|
|
CDK4
|
cyclin-dependent kinase 4
|
|
CDKN1B
|
cyclin-dependent kinase inhibitor 1B (p27, Kip1)
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CDT1
|
chromatin licensing and DNA replication factor 1
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CEP164
|
centrosomal protein 164kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CEP83
|
centrosomal protein 83kDa
|
|
CERKL
|
ceramide kinase-like
|
|
CFH
|
complement factor H
|
|
CFHR5
|
complement factor H-related 5
|
|
CFI
|
complement factor I
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHL1
|
cell adhesion molecule L1-like
|
|
CHMP2B
|
charged multivesicular body protein 2B
|
|
CHN1
|
chimerin 1
|
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
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
|
|
CIITA
|
class II, major histocompatibility complex, transactivator
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CITED2
|
Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
|
|
CLCN5
|
chloride channel, voltage-sensitive 5
|
|
CLCNKA
|
chloride channel, voltage-sensitive Ka
|
|
CLCNKB
|
chloride channel, voltage-sensitive Kb
|
|
CLDN16
|
claudin 16
|
|
CLDN19
|
claudin 19
|
|
CLEC7A
|
C-type lectin domain family 7, member A
|
|
CLIC2
|
chloride intracellular channel 2
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CLMP
|
CXADR-like membrane protein
|
|
CLP1
|
cleavage and polyadenylation factor I subunit 1
|
|
CLPP
|
caseinolytic mitochondrial matrix peptidase proteolytic subunit
|
|
CLRN1
|
clarin 1
|
|
CNBP
|
CCHC-type zinc finger, nucleic acid binding protein
|
|
CNGA1
|
cyclic nucleotide gated channel alpha 1
|
|
CNGB1
|
cyclic nucleotide gated channel beta 1
|
|
CNTN4
|
contactin 4
|
|
COA5
|
cytochrome c oxidase assembly factor 5
|
|
COG6
|
component of oligomeric golgi complex 6
|
|
COL14A1
|
collagen, type XIV, alpha 1
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL4A3
|
collagen, type IV, alpha 3 (Goodpasture antigen)
|
|
COL4A4
|
collagen, type IV, alpha 4
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
COL5A1
|
collagen, type V, alpha 1
|
|
COL5A2
|
collagen, type V, alpha 2
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COLEC11
|
collectin sub-family member 11
|
|
COMT
|
catechol-O-methyltransferase
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
COQ6
|
coenzyme Q6 monooxygenase
|
|
COX1
|
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX14
|
COX14 cytochrome c oxidase assembly factor
|
|
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
|
|
CPT1A
|
carnitine palmitoyltransferase 1A (liver)
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRBN
|
cereblon
|
|
CREBBP
|
CREB binding protein
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CRTAP
|
cartilage associated protein
|
|
CRX
|
cone-rod homeobox
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
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
|
|
CTGF
|
connective tissue growth factor
|
|
CTH
|
cystathionine gamma-lyase
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CUBN
|
cubilin (intrinsic factor-cobalamin receptor)
|
|
CUL4B
|
cullin 4B
|
|
CUL7
|
cullin 7
|
|
CXCR4
|
chemokine (C-X-C motif) receptor 4
|
|
CYB5A
|
cytochrome b5 type A (microsomal)
|
|
CYP11A1
|
cytochrome P450, family 11, subfamily A, polypeptide 1
|
|
CYP11B1
|
cytochrome P450, family 11, subfamily B, polypeptide 1
|
|
CYP11B2
|
cytochrome P450, family 11, subfamily B, polypeptide 2
|
|
CYP17A1
|
cytochrome P450, family 17, subfamily A, polypeptide 1
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
CYP21A2
|
cytochrome P450, family 21, subfamily A, polypeptide 2
|
|
CYP24A1
|
cytochrome P450, family 24, subfamily A, polypeptide 1
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, polypeptide 1
|
|
CYP4F22
|
cytochrome P450, family 4, subfamily F, polypeptide 22
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
D2HGDH
|
D-2-hydroxyglutarate dehydrogenase
|
|
DACT1
|
dishevelled-binding antagonist of beta-catenin 1
|
|
DAZ1
|
deleted in azoospermia 1
|
|
DBH
|
dopamine beta-hydroxylase (dopamine beta-monooxygenase)
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DCC
|
DCC netrin 1 receptor
|
|
DCHS1
|
dachsous cadherin-related 1
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DCX
|
doublecortin
|
|
DDHD2
|
DDHD domain containing 2
|
|
DGKE
|
diacylglycerol kinase, epsilon 64kDa
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
|
DHH
|
desert hedgehog
|
|
DHODH
|
dihydroorotate dehydrogenase (quinone)
|
|
DHTKD1
|
dehydrogenase E1 and transketolase domain containing 1
|
|
DIAPH2
|
diaphanous-related formin 2
|
|
DIRC2
|
disrupted in renal carcinoma 2
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DLD
|
dihydrolipoamide dehydrogenase
|
|
DLG3
|
discs, large homolog 3 (Drosophila)
|
|
DLL3
|
delta-like 3 (Drosophila)
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DMRT1
|
doublesex and mab-3 related transcription factor 1
|
|
DMRT2
|
doublesex and mab-3 related transcription factor 2
|
|
DNA2
|
DNA replication helicase/nuclease 2
|
|
DNAAF1
|
dynein, axonemal, assembly factor 1
|
|
DNAAF3
|
dynein, axonemal, assembly factor 3
|
|
DNAAF5
|
dynein, axonemal, assembly factor 5
|
|
DNAI1
|
dynein, axonemal, intermediate chain 1
|
|
DNAI2
|
dynein, axonemal, intermediate chain 2
|
|
DNAJC19
|
DnaJ (Hsp40) homolog, subfamily C, member 19
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
DOK7
|
docking protein 7
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
DPY19L2
|
dpy-19-like 2 (C. elegans)
|
|
DSE
|
dermatan sulfate epimerase
|
|
DSP
|
desmoplakin
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
DYX1C1
|
dyslexia susceptibility 1 candidate 1
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
ECE1
|
endothelin converting enzyme 1
|
|
EFEMP2
|
EGF containing fibulin-like extracellular matrix protein 2
|
|
EFNB1
|
ephrin-B1
|
|
EHHADH
|
enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
|
|
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
|
|
ELN
|
elastin
|
|
EMG1
|
EMG1 N1-specific pseudouridine methyltransferase
|
|
ENG
|
endoglin
|
|
EP300
|
E1A binding protein p300
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
EPHX1
|
epoxide hydrolase 1, microsomal (xenobiotic)
|
|
ERBB3
|
erb-b2 receptor tyrosine kinase 3
|
|
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
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ERLIN2
|
ER lipid raft associated 2
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
ESR1
|
estrogen receptor 1
|
|
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
|
|
EWSR1
|
EWS RNA-binding protein 1
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
F10
|
coagulation factor X
|
|
F2
|
coagulation factor II (thrombin)
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
F7
|
coagulation factor VII (serum prothrombin conversion accelerator)
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FAH
|
fumarylacetoacetate hydrolase (fumarylacetoacetase)
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAM134B
|
family with sequence similarity 134, member B
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FAM20A
|
family with sequence similarity 20, member A
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FAM58A
|
family with sequence similarity 58, member A
|
|
FAN1
|
FANCD2/FANCI-associated nuclease 1
|
|
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
|
|
FBLN5
|
fibulin 5
|
|
FBN1
|
fibrillin 1
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
FERMT1
|
fermitin family member 1
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGA
|
fibrinogen alpha chain
|
|
FGB
|
fibrinogen beta chain
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGF20
|
fibroblast growth factor 20
|
|
FGF23
|
fibroblast growth factor 23
|
|
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
|
|
FIGLA
|
folliculogenesis specific basic helix-loop-helix
|
|
FKBP14
|
FK506 binding protein 14, 22 kDa
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLCN
|
folliculin
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FLRT3
|
fibronectin leucine rich transmembrane protein 3
|
|
FLT4
|
fms-related tyrosine kinase 4
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FMO3
|
flavin containing monooxygenase 3
|
|
FMR1
|
fragile X mental retardation 1
|
|
FN1
|
fibronectin 1
|
|
FNBP4
|
formin binding protein 4
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
FOXC1
|
forkhead box C1
|
|
FOXC2
|
forkhead box C2
|
|
FOXF1
|
forkhead box F1
|
|
FOXI1
|
forkhead box I1
|
|
FOXL2
|
forkhead box L2
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM1
|
FRAS1 related extracellular matrix 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
|
FSHB
|
follicle stimulating hormone, beta polypeptide
|
|
FSHR
|
follicle stimulating hormone receptor
|
|
FTCD
|
formimidoyltransferase cyclodeaminase
|
|
FTO
|
fat mass and obesity associated
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
FUS
|
FUS RNA binding protein
|
|
FUZ
|
fuzzy planar cell polarity protein
|
|
FXYD2
|
FXYD domain containing ion transport regulator 2
|
|
G6PC
|
glucose-6-phosphatase, catalytic subunit
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GALE
|
UDP-galactose-4-epimerase
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GALNT3
|
polypeptide N-acetylgalactosaminyltransferase 3
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GATA3
|
GATA binding protein 3
|
|
GATA4
|
GATA binding protein 4
|
|
GATA5
|
GATA binding protein 5
|
|
GATA6
|
GATA binding protein 6
|
|
GATM
|
glycine amidinotransferase (L-arginine:glycine amidinotransferase)
|
|
GBA
|
glucosidase, beta, acid
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GCSH
|
glycine cleavage system protein H (aminomethyl carrier)
|
|
GDF1
|
growth differentiation factor 1
|
|
GDF2
|
growth differentiation factor 2
|
|
GDF3
|
growth differentiation factor 3
|
|
GDF6
|
growth differentiation factor 6
|
|
GFI1B
|
growth factor independent 1B transcription repressor
|
|
GHR
|
growth hormone receptor
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJA5
|
gap junction protein, alpha 5, 40kDa
|
|
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
|
|
GK
|
glycerol kinase
|
|
GLA
|
galactosidase, alpha
|
|
GLB1
|
galactosidase, beta 1
|
|
GLDC
|
glycine dehydrogenase (decarboxylating)
|
|
GLI2
|
GLI family zinc finger 2
|
|
GLI3
|
GLI family zinc finger 3
|
|
GLIS2
|
GLIS family zinc finger 2
|
|
GLIS3
|
GLIS family zinc finger 3
|
|
GLYCTK
|
glycerate kinase
|
|
GNA11
|
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
|
|
GNAS
|
GNAS complex locus
|
|
GNAS-AS1
|
GNAS antisense RNA 1
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GNRH1
|
gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
|
|
GNRHR
|
gonadotropin-releasing hormone receptor
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GOPC
|
golgi-associated PDZ and coiled-coil motif containing
|
|
GP1BA
|
glycoprotein Ib (platelet), alpha polypeptide
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GP6
|
glycoprotein VI (platelet)
|
|
GP9
|
glycoprotein IX (platelet)
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GPC6
|
glypican 6
|
|
GRHPR
|
glyoxylate reductase/hydroxypyruvate reductase
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
GSC
|
goosecoid homeobox
|
|
GSN
|
gelsolin
|
|
GTF2H5
|
general transcription factor IIH, polypeptide 5
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
|
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)
|
|
H6PD
|
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
|
|
HADH
|
hydroxyacyl-CoA dehydrogenase
|
|
HADHA
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
|
|
HADHB
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
|
|
HAMP
|
hepcidin antimicrobial peptide
|
|
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
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC8
|
histone deacetylase 8
|
|
HES7
|
hes family bHLH transcription factor 7
|
|
HESX1
|
HESX homeobox 1
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
HFE
|
hemochromatosis
|
|
HFE2
|
hemochromatosis type 2 (juvenile)
|
|
HFM1
|
HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)
|
|
HGD
|
homogentisate 1,2-dioxygenase
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
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
|
|
HLCS
|
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
HMGCL
|
3-hydroxymethyl-3-methylglutaryl-CoA lyase
|
|
HMOX1
|
heme oxygenase 1
|
|
HNF1A
|
HNF1 homeobox A
|
|
HNF1B
|
HNF1 homeobox B
|
|
HOGA1
|
4-hydroxy-2-oxoglutarate aldolase 1
|
|
HOXA13
|
homeobox A13
|
|
HOXD13
|
homeobox D13
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HPS1
|
Hermansky-Pudlak syndrome 1
|
|
HPSE2
|
heparanase 2 (inactive)
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HS6ST1
|
heparan sulfate 6-O-sulfotransferase 1
|
|
HSD17B3
|
hydroxysteroid (17-beta) dehydrogenase 3
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSD3B2
|
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
HTRA1
|
HtrA serine peptidase 1
|
|
HUWE1
|
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
|
|
HYAL1
|
hyaluronoglucosaminidase 1
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
ICK
|
intestinal cell (MAK-like) kinase
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
|
IDS
|
iduronate 2-sulfatase
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IER3IP1
|
immediate early response 3 interacting protein 1
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT27
|
intraflagellar transport 27
|
|
IFT43
|
intraflagellar transport 43
|
|
IFT80
|
intraflagellar transport 80
|
|
IGF2
|
insulin-like growth factor 2
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
IGHV4-34
|
immunoglobulin heavy variable 4-34
|
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
IL10
|
interleukin 10
|
|
IL10RB
|
interleukin 10 receptor, beta
|
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
|
IL17F
|
interleukin 17F
|
|
IL17RA
|
interleukin 17 receptor A
|
|
IL17RD
|
interleukin 17 receptor D
|
|
IL23R
|
interleukin 23 receptor
|
|
IL2RG
|
interleukin 2 receptor, gamma
|
|
IL7R
|
interleukin 7 receptor
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
INPPL1
|
inositol polyphosphate phosphatase-like 1
|
|
INSL3
|
insulin-like 3 (Leydig cell)
|
|
INSR
|
insulin receptor
|
|
INVS
|
inversin
|
|
IQCB1
|
IQ motif containing B1
|
|
IRF5
|
interferon regulatory factor 5
|
|
IRF6
|
interferon regulatory factor 6
|
|
IRX5
|
iroquois homeobox 5
|
|
ISCU
|
iron-sulfur cluster assembly enzyme
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
ITGA2B
|
integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
|
|
ITGA3
|
integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
|
|
ITGA6
|
integrin, alpha 6
|
|
ITGA8
|
integrin, alpha 8
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
ITGB4
|
integrin, beta 4
|
|
IVD
|
isovaleryl-CoA dehydrogenase
|
|
JAG1
|
jagged 1
|
|
JAM3
|
junctional adhesion molecule 3
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNE5
|
potassium channel, voltage gated subfamily E regulatory beta subunit 5
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KCNJ5
|
potassium channel, inwardly rectifying subfamily J, member 5
|
|
KCNQ1OT1
|
KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
|
|
KCTD1
|
potassium channel tetramerization domain containing 1
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIAA0196
|
KIAA0196
|
|
KIAA2022
|
KIAA2022
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF1B
|
kinesin family member 1B
|
|
KIF1BP
|
KIF1 binding protein
|
|
KIF5A
|
kinesin family member 5A
|
|
KIF7
|
kinesin family member 7
|
|
KISS1
|
KiSS-1 metastasis-suppressor
|
|
KISS1R
|
KISS1 receptor
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KIZ
|
kizuna centrosomal protein
|
|
KL
|
klotho
|
|
KLF6
|
Kruppel-like factor 6
|
|
KLHL10
|
kelch-like family member 10
|
|
KLHL7
|
kelch-like family member 7
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT17
|
keratin 17, type I
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LARGE
|
like-glycosyltransferase
|
|
LARS2
|
leucyl-tRNA synthetase 2, mitochondrial
|
|
LCAT
|
lecithin-cholesterol acyltransferase
|
|
LDHA
|
lactate dehydrogenase A
|
|
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
|
|
LHB
|
luteinizing hormone beta polypeptide
|
|
LHCGR
|
luteinizing hormone/choriogonadotropin receptor
|
|
LHX1
|
LIM homeobox 1
|
|
LHX3
|
LIM homeobox 3
|
|
LHX4
|
LIM homeobox 4
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LIMK1
|
LIM domain kinase 1
|
|
LIPN
|
lipase, family member N
|
|
LMBRD1
|
LMBR1 domain containing 1
|
|
LMNA
|
lamin A/C
|
|
LMNB1
|
lamin B1
|
|
LMNB2
|
lamin B2
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
LPIN1
|
lipin 1
|
|
LPIN2
|
lipin 2
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LRIG2
|
leucine-rich repeats and immunoglobulin-like domains 2
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LRRFIP2
|
leucine rich repeat (in FLII) interacting protein 2
|
|
LTBP4
|
latent transforming growth factor beta binding protein 4
|
|
LYZ
|
lysozyme
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAD1L1
|
MAD1 mitotic arrest deficient-like 1 (yeast)
|
|
MAFB
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MAK
|
male germ cell-associated kinase
|
|
MAMLD1
|
mastermind-like domain containing 1
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MAP3K1
|
mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MARS2
|
methionyl-tRNA synthetase 2, mitochondrial
|
|
MASP1
|
mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MCC
|
mutated in colorectal cancers
|
|
MCCC1
|
methylcrotonoyl-CoA carboxylase 1 (alpha)
|
|
MCCC2
|
methylcrotonoyl-CoA carboxylase 2 (beta)
|
|
MCEE
|
methylmalonyl CoA epimerase
|
|
MCFD2
|
multiple coagulation factor deficiency 2
|
|
MCPH1
|
microcephalin 1
|
|
MDM2
|
MDM2 proto-oncogene, E3 ubiquitin protein ligase
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MEFV
|
Mediterranean fever
|
|
MEGF8
|
multiple EGF-like-domains 8
|
|
MEOX1
|
mesenchyme homeobox 1
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MESP2
|
mesoderm posterior basic helix-loop-helix transcription factor 2
|
|
MET
|
MET proto-oncogene, receptor tyrosine kinase
|
|
MID1
|
midline 1
|
|
MIPOL1
|
mirror-image polydactyly 1
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MLH1
|
mutL homolog 1
|
|
MLH3
|
mutL homolog 3
|
|
MMAA
|
methylmalonic aciduria (cobalamin deficiency) cblA type
|
|
MMAB
|
methylmalonic aciduria (cobalamin deficiency) cblB type
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MMADHC
|
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MNX1
|
motor neuron and pancreas homeobox 1
|
|
MOCS1
|
molybdenum cofactor synthesis 1
|
|
MOCS2
|
molybdenum cofactor synthesis 2
|
|
MPC1
|
mitochondrial pyruvate carrier 1
|
|
MPLKIP
|
M-phase specific PLK1 interacting protein
|
|
MPST
|
mercaptopyruvate sulfurtransferase
|
|
MRPS22
|
mitochondrial ribosomal protein S22
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MSR1
|
macrophage scavenger receptor 1
|
|
MSX1
|
msh homeobox 1
|
|
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
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTM1
|
myotubularin 1
|
|
MTR
|
5-methyltetrahydrofolate-homocysteine methyltransferase
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
MUC1
|
mucin 1, cell surface associated
|
|
MUT
|
methylmalonyl CoA mutase
|
|
MYD88
|
myeloid differentiation primary response 88
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
MYO1E
|
myosin IE
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NAGLU
|
N-acetylglucosaminidase, alpha
|
|
NALCN
|
sodium leak channel, non selective
|
|
NANOS1
|
nanos homolog 1 (Drosophila)
|
|
NBEAL2
|
neurobeachin-like 2
|
|
NBN
|
nibrin
|
|
ND1
|
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NEK1
|
NIMA-related kinase 1
|
|
NEK2
|
NIMA-related kinase 2
|
|
NEK8
|
NIMA-related kinase 8
|
|
NELFA
|
negative elongation factor complex member A
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NF1
|
neurofibromin 1
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NIN
|
ninein (GSK3B interacting protein)
|
|
NIPA1
|
non imprinted in Prader-Willi/Angelman syndrome 1
|
|
NIPAL4
|
NIPA-like domain containing 4
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NLRP7
|
NLR family, pyrin domain containing 7
|
|
NME1
|
NME/NM23 nucleoside diphosphate kinase 1
|
|
NOBOX
|
NOBOX oogenesis homeobox
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NOTCH2
|
notch 2
|
|
NOTCH3
|
notch 3
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NPHP4
|
nephronophthisis 4
|
|
NPHS1
|
nephrosis 1, congenital, Finnish type (nephrin)
|
|
NPHS2
|
nephrosis 2, idiopathic, steroid-resistant (podocin)
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
NR5A1
|
nuclear receptor subfamily 5, group A, member 1
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NRL
|
neural retina leucine zipper
|
|
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
|
|
NT5C3A
|
5'-nucleotidase, cytosolic IIIA
|
|
OBSL1
|
obscurin-like 1
|
|
OCLN
|
occludin
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OGG1
|
8-oxoguanine DNA glycosylase
|
|
OPHN1
|
oligophrenin 1
|
|
OPLAH
|
5-oxoprolinase (ATP-hydrolysing)
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
ORC4
|
origin recognition complex, subunit 4
|
|
ORC6
|
origin recognition complex, subunit 6
|
|
OTC
|
ornithine carbamoyltransferase
|
|
OTX2
|
orthodenticle homeobox 2
|
|
OXCT1
|
3-oxoacid CoA transferase 1
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PAH
|
phenylalanine hydroxylase
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PANK2
|
pantothenate kinase 2
|
|
PAPSS2
|
3'-phosphoadenosine 5'-phosphosulfate synthase 2
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PAX1
|
paired box 1
|
|
PAX2
|
paired box 2
|
|
PAX3
|
paired box 3
|
|
PAX6
|
paired box 6
|
|
PC
|
pyruvate carboxylase
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PCK1
|
phosphoenolpyruvate carboxykinase 1 (soluble)
|
|
PCK2
|
phosphoenolpyruvate carboxykinase 2 (mitochondrial)
|
|
PCNT
|
pericentrin
|
|
PCSK1
|
proprotein convertase subtilisin/kexin type 1
|
|
PDE11A
|
phosphodiesterase 11A
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PDE6G
|
phosphodiesterase 6G, cGMP-specific, rod, gamma
|
|
PDE8B
|
phosphodiesterase 8B
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PDGFRL
|
platelet-derived growth factor receptor-like
|
|
PDSS2
|
prenyl (decaprenyl) diphosphate synthase, subunit 2
|
|
PEPD
|
peptidase D
|
|
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
|
|
PFKM
|
phosphofructokinase, muscle
|
|
PGAM2
|
phosphoglycerate mutase 2 (muscle)
|
|
PGK1
|
phosphoglycerate kinase 1
|
|
PGM3
|
phosphoglucomutase 3
|
|
PGR
|
progesterone receptor
|
|
PHEX
|
phosphate regulating endopeptidase homolog, X-linked
|
|
PHF6
|
PHD finger protein 6
|
|
PHF8
|
PHD finger protein 8
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PHKA1
|
phosphorylase kinase, alpha 1 (muscle)
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PIEZO1
|
piezo-type mechanosensitive ion channel component 1
|
|
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
|
|
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)
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PITX2
|
paired-like homeodomain 2
|
|
PKD1
|
polycystic kidney disease 1 (autosomal dominant)
|
|
PKD2
|
polycystic kidney disease 2 (autosomal dominant)
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PLAU
|
plasminogen activator, urokinase
|
|
PLCD1
|
phospholipase C, delta 1
|
|
PLCE1
|
phospholipase C, epsilon 1
|
|
PLEC
|
plectin
|
|
PLG
|
plasminogen
|
|
PLIN1
|
perilipin 1
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
PLOD2
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
|
|
PLP1
|
proteolipid protein 1
|
|
PMM2
|
phosphomannomutase 2
|
|
PMS1
|
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PNP
|
purine nucleoside phosphorylase
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POC1A
|
POC1 centriolar protein A
|
|
POF1B
|
premature ovarian failure, 1B
|
|
POLA1
|
polymerase (DNA directed), alpha 1, catalytic subunit
|
|
POLD1
|
polymerase (DNA directed), delta 1, catalytic subunit
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
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
|
|
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)
|
|
POU6F2
|
POU class 6 homeobox 2
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPM1B
|
protein phosphatase, Mg2+/Mn2+ dependent, 1B
|
|
PPP1R3A
|
protein phosphatase 1, regulatory subunit 3A
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRCC
|
papillary renal cell carcinoma (translocation-associated)
|
|
PRCD
|
progressive rod-cone degeneration
|
|
PRDM16
|
PR domain containing 16
|
|
PREPL
|
prolyl endopeptidase-like
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRKCD
|
protein kinase C, delta
|
|
PRKCSH
|
protein kinase C substrate 80K-H
|
|
PRLR
|
prolactin receptor
|
|
PRNP
|
prion protein
|
|
PRODH
|
proline dehydrogenase (oxidase) 1
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PROM1
|
prominin 1
|
|
PROP1
|
PROP paired-like homeobox 1
|
|
PRPF3
|
pre-mRNA processing factor 3
|
|
PRPF31
|
pre-mRNA processing factor 31
|
|
PRPF4
|
pre-mRNA processing factor 4
|
|
PRPF6
|
pre-mRNA processing factor 6
|
|
PRPF8
|
pre-mRNA processing factor 8
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRRX1
|
paired related homeobox 1
|
|
PRTN3
|
proteinase 3
|
|
PSAP
|
prosaposin
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
PSMC3IP
|
PSMC3 interacting protein
|
|
PSTPIP1
|
proline-serine-threonine phosphatase interacting protein 1
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PTPN12
|
protein tyrosine phosphatase, non-receptor type 12
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PTPN3
|
protein tyrosine phosphatase, non-receptor type 3
|
|
PTPRJ
|
protein tyrosine phosphatase, receptor type, J
|
|
PTPRO
|
protein tyrosine phosphatase, receptor type, O
|
|
PUF60
|
poly-U binding splicing factor 60KDa
|
|
PUS1
|
pseudouridylate synthase 1
|
|
PVRL1
|
poliovirus receptor-related 1 (herpesvirus entry mediator C)
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
PYGM
|
phosphorylase, glycogen, muscle
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB23
|
RAB23, 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)
|
|
RAD51C
|
RAD51 paralog C
|
|
RAD54B
|
RAD54 homolog B (S. cerevisiae)
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAG1
|
recombination activating gene 1
|
|
RAG2
|
recombination activating gene 2
|
|
RAI1
|
retinoic acid induced 1
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RARB
|
retinoic acid receptor, beta
|
|
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
|
|
RBP3
|
retinol binding protein 3, interstitial
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RECQL4
|
RecQ protein-like 4
|
|
REEP1
|
receptor accessory protein 1
|
|
REEP2
|
receptor accessory protein 2
|
|
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
|
|
RGR
|
retinal G protein coupled receptor
|
|
RHO
|
rhodopsin
|
|
RIN2
|
Ras and Rab interactor 2
|
|
RIPK4
|
receptor-interacting serine-threonine kinase 4
|
|
RIT1
|
Ras-like without CAAX 1
|
|
RLBP1
|
retinaldehyde binding protein 1
|
|
RMND1
|
required for meiotic nuclear division 1 homolog (S. cerevisiae)
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNASEL
|
ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)
|
|
RNF139
|
ring finger protein 139
|
|
RNF216
|
ring finger protein 216
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
ROBO2
|
roundabout, axon guidance receptor, homolog 2 (Drosophila)
|
|
ROM1
|
retinal outer segment membrane protein 1
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RP1
|
retinitis pigmentosa 1 (autosomal dominant)
|
|
RP2
|
retinitis pigmentosa 2 (X-linked recessive)
|
|
RP9
|
retinitis pigmentosa 9 (autosomal dominant)
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RPL11
|
ribosomal protein L11
|
|
RPL15
|
ribosomal protein L15
|
|
RPL26
|
ribosomal protein L26
|
|
RPL35A
|
ribosomal protein L35a
|
|
RPL5
|
ribosomal protein L5
|
|
RPS10
|
ribosomal protein S10
|
|
RPS17
|
ribosomal protein S17
|
|
RPS19
|
ribosomal protein S19
|
|
RPS24
|
ribosomal protein S24
|
|
RPS26
|
ribosomal protein S26
|
|
RPS29
|
ribosomal protein S29
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RPS7
|
ribosomal protein S7
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
RSPH1
|
radial spoke head 1 homolog (Chlamydomonas)
|
|
RSPH9
|
radial spoke head 9 homolog (Chlamydomonas)
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
RTN2
|
reticulon 2
|
|
RXFP2
|
relaxin/insulin-like family peptide receptor 2
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SACS
|
sacsin molecular chaperone
|
|
SAG
|
S-antigen; retina and pineal gland (arrestin)
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SARS2
|
seryl-tRNA synthetase 2, mitochondrial
|
|
SATB2
|
SATB homeobox 2
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SC5D
|
sterol-C5-desaturase
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SCNN1A
|
sodium channel, non voltage gated 1 alpha subunit
|
|
SCNN1B
|
sodium channel, non voltage gated 1 beta subunit
|
|
SCNN1G
|
sodium channel, non voltage gated 1 gamma subunit
|
|
SCP2
|
sterol carrier protein 2
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
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
|
|
SEC23A
|
Sec23 homolog A (S. cerevisiae)
|
|
SEC63
|
SEC63 homolog (S. cerevisiae)
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
SEPT12
|
septin 12
|
|
SERAC1
|
serine active site containing 1
|
|
SERPINA1
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
|
|
SERPINE1
|
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
|
|
SERPINH1
|
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
|
|
SETBP1
|
SET binding protein 1
|
|
SETD5
|
SET domain containing 5
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SFTPC
|
surfactant protein C
|
|
SGSH
|
N-sulfoglucosamine sulfohydrolase
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SHH
|
sonic hedgehog
|
|
SHOC2
|
soc-2 suppressor of clear homolog (C. elegans)
|
|
SI
|
sucrase-isomaltase (alpha-glucosidase)
|
|
SIGMAR1
|
sigma non-opioid intracellular receptor 1
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SIX1
|
SIX homeobox 1
|
|
SIX5
|
SIX homeobox 5
|
|
SIX6
|
SIX homeobox 6
|
|
SKI
|
SKI proto-oncogene
|
|
SLC12A1
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
|
|
SLC12A3
|
solute carrier family 12 (sodium/chloride transporter), member 3
|
|
SLC16A12
|
solute carrier family 16, member 12
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC1A1
|
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC22A12
|
solute carrier family 22 (organic anion/urate transporter), member 12
|
|
SLC25A20
|
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC2A2
|
solute carrier family 2 (facilitated glucose transporter), member 2
|
|
SLC2A9
|
solute carrier family 2 (facilitated glucose transporter), member 9
|
|
SLC34A1
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
|
|
SLC34A2
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 2
|
|
SLC34A3
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
|
|
SLC35D1
|
solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
|
|
SLC36A2
|
solute carrier family 36 (proton/amino acid symporter), member 2
|
|
SLC37A4
|
solute carrier family 37 (glucose-6-phosphate transporter), member 4
|
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
|
SLC3A1
|
solute carrier family 3 (amino acid transporter heavy chain), member 1
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SLC4A1
|
solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
|
|
SLC4A4
|
solute carrier family 4 (sodium bicarbonate cotransporter), member 4
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC5A1
|
solute carrier family 5 (sodium/glucose cotransporter), member 1
|
|
SLC5A2
|
solute carrier family 5 (sodium/glucose cotransporter), member 2
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLC6A20
|
solute carrier family 6 (proline IMINO transporter), member 20
|
|
SLC7A14
|
solute carrier family 7, member 14
|
|
SLC7A7
|
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
|
|
SLC7A9
|
solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
|
|
SLC9A3R1
|
solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SLCO5A1
|
solute carrier organic anion transporter family, member 5A1
|
|
SLITRK6
|
SLIT and NTRK-like family, member 6
|
|
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
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SMS
|
spermine synthase
|
|
SNAI2
|
snail family zinc finger 2
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SNX3
|
sorting nexin 3
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SOX17
|
SRY (sex determining region Y)-box 17
|
|
SOX18
|
SRY (sex determining region Y)-box 18
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SPAST
|
spastin
|
|
SPATA16
|
spermatogenesis associated 16
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPINK5
|
serine peptidase inhibitor, Kazal type 5
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
SQSTM1
|
sequestosome 1
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
SRD5A2
|
steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
|
|
SRY
|
sex determining region Y
|
|
SSTR5
|
somatostatin receptor 5
|
|
STAC3
|
SH3 and cysteine rich domain 3
|
|
STAG3
|
stromal antigen 3
|
|
STAMBP
|
STAM binding protein
|
|
STAR
|
steroidogenic acute regulatory protein
|
|
STAT1
|
signal transducer and activator of transcription 1, 91kDa
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
STEAP3
|
STEAP family member 3, metalloreductase
|
|
STK11
|
serine/threonine kinase 11
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
STRADA
|
STE20-related kinase adaptor alpha
|
|
STRC
|
stereocilin
|
|
STS
|
steroid sulfatase (microsomal), isozyme S
|
|
STT3B
|
STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
STX16
|
syntaxin 16
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
SUCLG1
|
succinate-CoA ligase, alpha subunit
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
SULF1
|
sulfatase 1
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
SUOX
|
sulfite oxidase
|
|
SYCP3
|
synaptonemal complex protein 3
|
|
TAC3
|
tachykinin 3
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
|
TACR3
|
tachykinin receptor 3
|
|
TAF4B
|
TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa
|
|
TALDO1
|
transaldolase 1
|
|
TAT
|
tyrosine aminotransferase
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBCE
|
tubulin folding cofactor E
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBP
|
TATA box binding protein
|
|
TBX1
|
T-box 1
|
|
TBX15
|
T-box 15
|
|
TBX2
|
T-box 2
|
|
TBX22
|
T-box 22
|
|
TBX3
|
T-box 3
|
|
TBX4
|
T-box 4
|
|
TBX6
|
T-box 6
|
|
TCF4
|
transcription factor 4
|
|
TCN2
|
transcobalamin II
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TFE3
|
transcription factor binding to IGHM enhancer 3
|
|
TFR2
|
transferrin receptor 2
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TGM1
|
transglutaminase 1
|
|
THOC6
|
THO complex 6
|
|
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
|
|
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
|
|
TNFRSF11B
|
tumor necrosis factor receptor superfamily, member 11b
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TNXB
|
tenascin XB
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
TP53
|
tumor protein p53
|
|
TP63
|
tumor protein p63
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TRAF3IP2
|
TRAF3 interacting protein 2
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRIM37
|
tripartite motif containing 37
|
|
TRMT10A
|
tRNA methyltransferase 10 homolog A (S. cerevisiae)
|
|
TRNE
|
|
|
TRPC6
|
transient receptor potential cation channel, subfamily C, member 6
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TSPYL1
|
TSPY-like 1
|
|
TTC21B
|
tetratricopeptide repeat domain 21B
|
|
TTC37
|
tetratricopeptide repeat domain 37
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TTR
|
transthyretin
|
|
TUB
|
tubby bipartite transcription factor
|
|
TULP1
|
tubby like protein 1
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
TWIST2
|
twist family bHLH transcription factor 2
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
UMOD
|
uromodulin
|
|
UMPS
|
uridine monophosphate synthetase
|
|
UNG
|
uracil-DNA glycosylase
|
|
UPB1
|
ureidopropionase, beta
|
|
UPF3B
|
UPF3 regulator of nonsense transcripts homolog B (yeast)
|
|
UQCC2
|
ubiquinol-cytochrome c reductase complex assembly factor 2
|
|
UROS
|
uroporphyrinogen III synthase
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
USP9Y
|
ubiquitin specific peptidase 9, Y-linked
|
|
VAMP7
|
vesicle-associated membrane protein 7
|
|
VANGL1
|
VANGL planar cell polarity protein 1
|
|
VANGL2
|
VANGL planar cell polarity protein 2
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
|
|
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)
|
|
VWF
|
von Willebrand factor
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR11
|
WD repeat domain 11
|
|
WDR19
|
WD repeat domain 19
|
|
WDR34
|
WD repeat domain 34
|
|
WDR35
|
WD repeat domain 35
|
|
WDR60
|
WD repeat domain 60
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
WIPF1
|
WAS/WASL interacting protein family, member 1
|
|
WNT10A
|
wingless-type MMTV integration site family, member 10A
|
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
|
WNT4
|
wingless-type MMTV integration site family, member 4
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
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
|
|
XDH
|
xanthine dehydrogenase
|
|
XPNPEP3
|
X-prolyl aminopeptidase 3, mitochondrial
|
|
YAP1
|
Yes-associated protein 1
|
|
YARS2
|
tyrosyl-tRNA synthetase 2, mitochondrial
|
|
YWHAE
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
|
|
ZBTB16
|
zinc finger and BTB domain containing 16
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZDHHC9
|
zinc finger, DHHC-type containing 9
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZFPM2
|
zinc finger protein, FOG family member 2
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
|
ZIC3
|
Zic family member 3
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
|
ZMYND10
|
zinc finger, MYND-type containing 10
|
|
ZMYND15
|
zinc finger, MYND-type containing 15
|
|
ZNF423
|
zinc finger protein 423
|
|
ZNF513
|
zinc finger protein 513
|
|
ZNF592
|
zinc finger protein 592
|
|
ZP1
|
zona pellucida glycoprotein 1 (sperm receptor)
|
|
ZSWIM6
|
zinc finger, SWIM-type containing 6
|
