| Symbol |
Name |
|
A2ML1
|
alpha-2-macroglobulin-like 1
|
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
AASS
|
aminoadipate-semialdehyde synthase
|
|
ABAT
|
4-aminobutyrate aminotransferase
|
|
ABCB7
|
ATP-binding cassette, sub-family B (MDR/TAP), member 7
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ACAD8
|
acyl-CoA dehydrogenase family, member 8
|
|
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
|
|
ACADVL
|
acyl-CoA dehydrogenase, very long chain
|
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ACP2
|
acid phosphatase 2, lysosomal
|
|
ACSL4
|
acyl-CoA synthetase long-chain family member 4
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ACTB
|
actin, beta
|
|
ACY1
|
aminoacylase 1
|
|
ADAMTS2
|
ADAM metallopeptidase with thrombospondin type 1 motif, 2
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
ADCY5
|
adenylate cyclase 5
|
|
ADCY6
|
adenylate cyclase 6
|
|
ADGRG1
|
adhesion G protein-coupled receptor G1
|
|
ADSL
|
adenylosuccinate lyase
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
AGA
|
aspartylglucosaminidase
|
|
AGK
|
acylglycerol kinase
|
|
AHI1
|
Abelson helper integration site 1
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
AIMP1
|
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
|
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
|
ALAD
|
aminolevulinate dehydratase
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
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
|
|
ALG11
|
ALG11, alpha-1,2-mannosyltransferase
|
|
ALG12
|
ALG12, alpha-1,6-mannosyltransferase
|
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
|
ALG6
|
ALG6, alpha-1,3-glucosyltransferase
|
|
ALG9
|
ALG9, alpha-1,2-mannosyltransferase
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
AMACR
|
alpha-methylacyl-CoA racemase
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
AMMECR1
|
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
|
|
AMPD1
|
adenosine monophosphate deaminase 1
|
|
AMPD2
|
adenosine monophosphate deaminase 2
|
|
AMT
|
aminomethyltransferase
|
|
ANG
|
angiogenin, ribonuclease, RNase A family, 5
|
|
ANK3
|
ankyrin 3, node of Ranvier (ankyrin G)
|
|
ANOS1
|
anosmin 1
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 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
|
|
AP5Z1
|
adaptor-related protein complex 5, zeta 1 subunit
|
|
AR
|
androgen receptor
|
|
ARG1
|
arginase 1
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARHGEF9
|
Cdc42 guanine nucleotide exchange factor (GEF) 9
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ARNT2
|
aryl-hydrocarbon receptor nuclear translocator 2
|
|
ARSA
|
arylsulfatase A
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ARX
|
aristaless related homeobox
|
|
ASCL1
|
achaete-scute family bHLH transcription factor 1
|
|
ASNS
|
asparagine synthetase (glutamine-hydrolyzing)
|
|
ASPA
|
aspartoacylase
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATCAY
|
ataxia, cerebellar, Cayman type
|
|
ATIC
|
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
|
|
ATL1
|
atlastin GTPase 1
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP10A
|
ATPase, class V, type 10A
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP2B3
|
ATPase, Ca++ transporting, plasma membrane 3
|
|
ATP6AP2
|
ATPase, H+ transporting, lysosomal accessory protein 2
|
|
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
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
ATXN1
|
ataxin 1
|
|
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
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
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
|
|
B4GALT7
|
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
|
|
B9D1
|
B9 protein domain 1
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCKDHA
|
branched chain keto acid dehydrogenase E1, alpha polypeptide
|
|
BCKDHB
|
branched chain keto acid dehydrogenase E1, beta polypeptide
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
|
BIN1
|
bridging integrator 1
|
|
BMP2
|
bone morphogenetic protein 2
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BMPER
|
BMP binding endothelial regulator
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
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
|
|
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
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CA8
|
carbonic anhydrase VIII
|
|
CACNA1D
|
calcium channel, voltage-dependent, L type, alpha 1D subunit
|
|
CAMKMT
|
calmodulin-lysine N-methyltransferase
|
|
CAMTA1
|
calmodulin binding transcription activator 1
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CASR
|
calcium-sensing receptor
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CCT5
|
chaperonin containing TCP1, subunit 5 (epsilon)
|
|
CD96
|
CD96 molecule
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CFL2
|
cofilin 2 (muscle)
|
|
CHAT
|
choline O-acetyltransferase
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHKB
|
choline kinase beta
|
|
CHL1
|
cell adhesion molecule L1-like
|
|
CHMP1A
|
charged multivesicular body protein 1A
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRNA7
|
cholinergic receptor, nicotinic, alpha 7 (neuronal)
|
|
CHRNB1
|
cholinergic receptor, nicotinic, beta 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
CLCF1
|
cardiotrophin-like cytokine factor 1
|
|
CLCNKA
|
chloride channel, voltage-sensitive Ka
|
|
CLCNKB
|
chloride channel, voltage-sensitive Kb
|
|
CLIC2
|
chloride intracellular channel 2
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CLP1
|
cleavage and polyadenylation factor I subunit 1
|
|
CNTN1
|
contactin 1
|
|
CNTN4
|
contactin 4
|
|
CNTNAP1
|
contactin associated protein 1
|
|
COA5
|
cytochrome c oxidase assembly factor 5
|
|
COASY
|
CoA synthase
|
|
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
|
|
COG7
|
component of oligomeric golgi complex 7
|
|
COG8
|
component of oligomeric golgi complex 8
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL4A2
|
collagen, type IV, alpha 2
|
|
COL5A1
|
collagen, type V, alpha 1
|
|
COL5A2
|
collagen, type V, alpha 2
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
|
COMT
|
catechol-O-methyltransferase
|
|
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)
|
|
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
|
|
CRLF1
|
cytokine receptor-like factor 1
|
|
CRX
|
cone-rod homeobox
|
|
CSF1R
|
colony stimulating factor 1 receptor
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CTNND2
|
catenin (cadherin-associated protein), delta 2
|
|
CTSD
|
cathepsin D
|
|
CYB5R3
|
cytochrome b5 reductase 3
|
|
CYFIP1
|
cytoplasmic FMR1 interacting protein 1
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, polypeptide 1
|
|
CYP2R1
|
cytochrome P450, family 2, subfamily R, 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
|
|
DARS
|
aspartyl-tRNA synthetase
|
|
DARS2
|
aspartyl-tRNA synthetase 2, mitochondrial
|
|
DBT
|
dihydrolipoamide branched chain transacylase E2
|
|
DCX
|
doublecortin
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
DDHD1
|
DDHD domain containing 1
|
|
DDHD2
|
DDHD domain containing 2
|
|
DDR2
|
discoidin domain receptor tyrosine kinase 2
|
|
DECR1
|
2,4-dienoyl CoA reductase 1, mitochondrial
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DLAT
|
dihydrolipoamide S-acetyltransferase
|
|
DLD
|
dihydrolipoamide dehydrogenase
|
|
DMD
|
dystrophin
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNMT1
|
DNA (cytosine-5-)-methyltransferase 1
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
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
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DRD2
|
dopamine receptor D2
|
|
DST
|
dystonin
|
|
DUOX2
|
dual oxidase 2
|
|
DUOXA2
|
dual oxidase maturation factor 2
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
EARS2
|
glutamyl-tRNA synthetase 2, mitochondrial
|
|
EDN3
|
endothelin 3
|
|
EDNRB
|
endothelin receptor type B
|
|
EFNB1
|
ephrin-B1
|
|
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
|
|
ELN
|
elastin
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
EMX2
|
empty spiracles homeobox 2
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC5
|
excision repair cross-complementation group 5
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC6L2
|
excision repair cross-complementation group 6-like 2
|
|
ERF
|
Ets2 repressor factor
|
|
ERLIN2
|
ER lipid raft associated 2
|
|
ETFA
|
electron-transfer-flavoprotein, alpha polypeptide
|
|
ETFB
|
electron-transfer-flavoprotein, beta polypeptide
|
|
ETFDH
|
electron-transferring-flavoprotein dehydrogenase
|
|
ETHE1
|
ethylmalonic encephalopathy 1
|
|
EXOSC3
|
exosome component 3
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAM126A
|
family with sequence similarity 126, member A
|
|
FAM134B
|
family with sequence similarity 134, member B
|
|
FASTKD2
|
FAST kinase domains 2
|
|
FBN1
|
fibrillin 1
|
|
FBP1
|
fructose-1,6-bisphosphatase 1
|
|
FBXO7
|
F-box protein 7
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FH
|
fumarate hydratase
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKBP14
|
FK506 binding protein 14, 22 kDa
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLNA
|
filamin A, alpha
|
|
FLRT3
|
fibronectin leucine rich transmembrane protein 3
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXE1
|
forkhead box E1
|
|
FOXG1
|
forkhead box G1
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FTL
|
ferritin, light polypeptide
|
|
FTO
|
fat mass and obesity associated
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
FUS
|
FUS RNA binding protein
|
|
GAA
|
glucosidase, alpha; acid
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GAD1
|
glutamate decarboxylase 1 (brain, 67kDa)
|
|
GALC
|
galactosylceramidase
|
|
GALE
|
UDP-galactose-4-epimerase
|
|
GAMT
|
guanidinoacetate N-methyltransferase
|
|
GAN
|
gigaxonin
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
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
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GCSH
|
glycine cleavage system protein H (aminomethyl carrier)
|
|
GDF6
|
growth differentiation factor 6
|
|
GDNF
|
glial cell derived neurotrophic factor
|
|
GFAP
|
glial fibrillary acidic protein
|
|
GFM1
|
G elongation factor, mitochondrial 1
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GLB1
|
galactosidase, beta 1
|
|
GLDC
|
glycine dehydrogenase (decarboxylating)
|
|
GLRA1
|
glycine receptor, alpha 1
|
|
GLRB
|
glycine receptor, beta
|
|
GLYCTK
|
glycerate kinase
|
|
GM2A
|
GM2 ganglioside activator
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNPAT
|
glyceronephosphate O-acyltransferase
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GORAB
|
golgin, RAB6-interacting
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GPHN
|
gephyrin
|
|
GSS
|
glutathione synthetase
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
GUSB
|
glucuronidase, beta
|
|
HACD1
|
3-hydroxyacyl-CoA dehydratase 1
|
|
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
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC8
|
histone deacetylase 8
|
|
HEPACAM
|
hepatic and glial cell adhesion molecule
|
|
HESX1
|
HESX homeobox 1
|
|
HEXA
|
hexosaminidase A (alpha polypeptide)
|
|
HIBCH
|
3-hydroxyisobutyryl-CoA hydrolase
|
|
HIRA
|
histone cell cycle regulator
|
|
HLCS
|
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
HPD
|
4-hydroxyphenylpyruvate dioxygenase
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HS6ST1
|
heparan sulfate 6-O-sulfotransferase 1
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
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
|
|
IBA57
|
IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IL17RD
|
interleukin 17 receptor D
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
INPPL1
|
inositol polyphosphate phosphatase-like 1
|
|
INS
|
insulin
|
|
IQCB1
|
IQ motif containing B1
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
ITGA7
|
integrin, alpha 7
|
|
ITM2B
|
integral membrane protein 2B
|
|
IYD
|
iodotyrosine deiodinase
|
|
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
|
|
KCNE5
|
potassium channel, voltage gated subfamily E regulatory beta subunit 5
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KCNJ13
|
potassium channel, inwardly rectifying subfamily J, member 13
|
|
KCNK9
|
potassium channel, two pore domain subfamily K, member 9
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
KCNQ3
|
potassium channel, voltage gated KQT-like subfamily Q, member 3
|
|
KCNT1
|
potassium channel, sodium activated subfamily T, member 1
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIAA0196
|
KIAA0196
|
|
KIAA1033
|
KIAA1033
|
|
KIAA2022
|
KIAA2022
|
|
KIF11
|
kinesin family member 11
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF1BP
|
KIF1 binding protein
|
|
KIF1C
|
kinesin family member 1C
|
|
KIF22
|
kinesin family member 22
|
|
KIF2A
|
kinesin heavy chain member 2A
|
|
KIF5A
|
kinesin family member 5A
|
|
KIF5C
|
kinesin family member 5C
|
|
KIF7
|
kinesin family member 7
|
|
KISS1R
|
KISS1 receptor
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
L2HGDH
|
L-2-hydroxyglutarate dehydrogenase
|
|
LAMA2
|
laminin, alpha 2
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LARGE
|
like-glycosyltransferase
|
|
LBR
|
lamin B receptor
|
|
LCA5
|
Leber congenital amaurosis 5
|
|
LEMD3
|
LEM domain containing 3
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LHX3
|
LIM homeobox 3
|
|
LHX4
|
LIM homeobox 4
|
|
LIAS
|
lipoic acid synthetase
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMBRD1
|
LMBR1 domain containing 1
|
|
LMNA
|
lamin A/C
|
|
LMNB1
|
lamin B1
|
|
LOR
|
loricrin
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LRPPRC
|
leucine-rich pentatricopeptide repeat containing
|
|
LTC4S
|
leukotriene C4 synthase
|
|
LYRM4
|
LYR motif containing 4
|
|
LYRM7
|
LYR motif containing 7
|
|
LYST
|
lysosomal trafficking regulator
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MAMLD1
|
mastermind-like domain containing 1
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MANBA
|
mannosidase, beta A, lysosomal
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MARS2
|
methionyl-tRNA synthetase 2, mitochondrial
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MCCC1
|
methylcrotonoyl-CoA carboxylase 1 (alpha)
|
|
MCCC2
|
methylcrotonoyl-CoA carboxylase 2 (beta)
|
|
MCOLN1
|
mucolipin 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MED17
|
mediator complex subunit 17
|
|
MEF2C
|
myocyte enhancer factor 2C
|
|
MEGF10
|
multiple EGF-like-domains 10
|
|
MFN2
|
mitofusin 2
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MIPOL1
|
mirror-image polydactyly 1
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MLC1
|
megalencephalic leukoencephalopathy with subcortical cysts 1
|
|
MLH1
|
mutL homolog 1
|
|
MLYCD
|
malonyl-CoA decarboxylase
|
|
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
|
|
MOCS1
|
molybdenum cofactor synthesis 1
|
|
MOCS2
|
molybdenum cofactor synthesis 2
|
|
MOGS
|
mannosyl-oligosaccharide glucosidase
|
|
MPDU1
|
mannose-P-dolichol utilization defect 1
|
|
MPI
|
mannose phosphate isomerase
|
|
MPLKIP
|
M-phase specific PLK1 interacting protein
|
|
MPST
|
mercaptopyruvate sulfurtransferase
|
|
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
|
|
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-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MTM1
|
myotubularin 1
|
|
MTO1
|
mitochondrial tRNA translation optimization 1
|
|
MTPAP
|
mitochondrial poly(A) polymerase
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
MTTP
|
microsomal triglyceride transfer protein
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MUT
|
methylmalonyl CoA mutase
|
|
MVK
|
mevalonate kinase
|
|
MYL2
|
myosin, light chain 2, regulatory, cardiac, slow
|
|
MYO5A
|
myosin VA (heavy chain 12, myoxin)
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NALCN
|
sodium leak channel, non selective
|
|
NBAS
|
neuroblastoma amplified sequence
|
|
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
|
|
NEB
|
nebulin
|
|
NECAP1
|
NECAP endocytosis associated 1
|
|
NELFA
|
negative elongation factor complex member A
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NIPA1
|
non imprinted in Prader-Willi/Angelman syndrome 1
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NMNAT1
|
nicotinamide nucleotide adenylyltransferase 1
|
|
NOTCH1
|
notch 1
|
|
NOTCH3
|
notch 3
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
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
|
|
NUP62
|
nucleoporin 62kDa
|
|
OCA2
|
oculocutaneous albinism II
|
|
OCLN
|
occludin
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OGDH
|
oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
|
|
OPA3
|
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
|
|
OPHN1
|
oligophrenin 1
|
|
ORAI1
|
ORAI calcium release-activated calcium modulator 1
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PAH
|
phenylalanine hydroxylase
|
|
PANK2
|
pantothenate kinase 2
|
|
PAX1
|
paired box 1
|
|
PAX3
|
paired box 3
|
|
PAX6
|
paired box 6
|
|
PAX8
|
paired box 8
|
|
PC
|
pyruvate carboxylase
|
|
PCBD1
|
pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PDHB
|
pyruvate dehydrogenase (lipoamide) beta
|
|
PDHX
|
pyruvate dehydrogenase complex, component X
|
|
PDP1
|
pyruvate dehyrogenase phosphatase catalytic subunit 1
|
|
PDSS2
|
prenyl (decaprenyl) diphosphate synthase, subunit 2
|
|
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
|
|
PHF6
|
PHD finger protein 6
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PHKB
|
phosphorylase kinase, beta
|
|
PHKG2
|
phosphorylase kinase, gamma 2 (testis)
|
|
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
|
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLCB1
|
phospholipase C, beta 1 (phosphoinositide-specific)
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
PLP1
|
proteolipid protein 1
|
|
PMM2
|
phosphomannomutase 2
|
|
PMP22
|
peripheral myelin protein 22
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PNP
|
purine nucleoside phosphorylase
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
PNPO
|
pyridoxamine 5'-phosphate oxidase
|
|
PNPT1
|
polyribonucleotide nucleotidyltransferase 1
|
|
POLA1
|
polymerase (DNA directed), alpha 1, catalytic subunit
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
|
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
|
|
POU1F1
|
POU class 1 homeobox 1
|
|
PPM1B
|
protein phosphatase, Mg2+/Mn2+ dependent, 1B
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRDM16
|
PR domain containing 16
|
|
PREPL
|
prolyl endopeptidase-like
|
|
PRF1
|
perforin 1 (pore forming protein)
|
|
PRNP
|
prion protein
|
|
PRODH
|
proline dehydrogenase (oxidase) 1
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PROP1
|
PROP paired-like homeobox 1
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PRX
|
periaxin
|
|
PSAP
|
prosaposin
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
PSEN1
|
presenilin 1
|
|
PTCH1
|
patched 1
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
|
PUS1
|
pseudouridylate synthase 1
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
QDPR
|
quinoid dihydropteridine reductase
|
|
RAB18
|
RAB18, 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)
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAD50
|
RAD50 homolog (S. cerevisiae)
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAI1
|
retinoic acid induced 1
|
|
RANBP2
|
RAN binding protein 2
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RARB
|
retinoic acid receptor, beta
|
|
RARS2
|
arginyl-tRNA synthetase 2, mitochondrial
|
|
RB1
|
retinoblastoma 1
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
RD3
|
retinal degeneration 3
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
REEP1
|
receptor accessory protein 1
|
|
REEP2
|
receptor accessory protein 2
|
|
RET
|
ret proto-oncogene
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RFT1
|
RFT1 homolog (S. cerevisiae)
|
|
RIN2
|
Ras and Rab interactor 2
|
|
RIT1
|
Ras-like without CAAX 1
|
|
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
|
|
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
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
RTN2
|
reticulon 2
|
|
RTTN
|
rotatin
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SACS
|
sacsin molecular chaperone
|
|
SAMHD1
|
SAM domain and HD domain 1
|
|
SATB2
|
SATB homeobox 2
|
|
SC5D
|
sterol-C5-desaturase
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SCO2
|
SCO2 cytochrome c oxidase assembly protein
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHAF1
|
succinate dehydrogenase complex assembly factor 1
|
|
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
|
|
SEPN1
|
selenoprotein N, 1
|
|
SEPSECS
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
|
|
SERAC1
|
serine active site containing 1
|
|
SERPINH1
|
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
|
|
SETBP1
|
SET binding protein 1
|
|
SGCE
|
sarcoglycan, epsilon
|
|
SH2B1
|
SH2B adaptor protein 1
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SHH
|
sonic hedgehog
|
|
SIGMAR1
|
sigma non-opioid intracellular receptor 1
|
|
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
|
|
SLC13A5
|
solute carrier family 13 (sodium-dependent citrate transporter), member 5
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC22A5
|
solute carrier family 22 (organic cation/carnitine transporter), member 5
|
|
SLC25A1
|
solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
|
|
SLC25A12
|
solute carrier family 25 (aspartate/glutamate carrier), member 12
|
|
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
|
|
SLC25A3
|
solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
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
|
|
SLC30A10
|
solute carrier family 30, member 10
|
|
SLC33A1
|
solute carrier family 33 (acetyl-CoA transporter), member 1
|
|
SLC34A3
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
|
|
SLC35C1
|
solute carrier family 35 (GDP-fucose transporter), member C1
|
|
SLC3A1
|
solute carrier family 3 (amino acid transporter heavy chain), member 1
|
|
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
|
|
SLC5A5
|
solute carrier family 5 (sodium/iodide cotransporter), member 5
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SLC6A5
|
solute carrier family 6 (neurotransmitter transporter), member 5
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLC7A7
|
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
|
|
SMARCA4
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
|
|
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
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SMS
|
spermine synthase
|
|
SNAI2
|
snail family zinc finger 2
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SPAST
|
spastin
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SPEG
|
SPEG complex locus
|
|
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
|
|
ST3GAL3
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
|
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
|
STAMBP
|
STAM binding protein
|
|
STIM1
|
stromal interaction molecule 1
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
STRADA
|
STE20-related kinase adaptor alpha
|
|
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
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
SUOX
|
sulfite oxidase
|
|
SURF1
|
surfeit 1
|
|
SYNGAP1
|
synaptic Ras GTPase activating protein 1
|
|
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
|
|
TARDBP
|
TAR DNA binding protein
|
|
TARS2
|
threonyl-tRNA synthetase 2, mitochondrial (putative)
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TBX2
|
T-box 2
|
|
TBX4
|
T-box 4
|
|
TCF4
|
transcription factor 4
|
|
TCTN1
|
tectonic family member 1
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TECPR2
|
tectonin beta-propeller repeat containing 2
|
|
TERT
|
telomerase reverse transcriptase
|
|
TG
|
thyroglobulin
|
|
TH
|
tyrosine hydroxylase
|
|
THRA
|
thyroid hormone receptor, alpha
|
|
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
|
|
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
|
|
TNXB
|
tenascin XB
|
|
TOR1A
|
torsin family 1, member A (torsin A)
|
|
TP53
|
tumor protein p53
|
|
TPI1
|
triosephosphate isomerase 1
|
|
TPK1
|
thiamin pyrophosphokinase 1
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
TPO
|
thyroid peroxidase
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRHR
|
thyrotropin-releasing hormone receptor
|
|
TRIM2
|
tripartite motif containing 2
|
|
TRIM37
|
tripartite motif containing 37
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSEN54
|
TSEN54 tRNA splicing endonuclease subunit
|
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
|
TSHB
|
thyroid stimulating hormone, beta
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
TTR
|
transthyretin
|
|
TUBA1A
|
tubulin, alpha 1a
|
|
TUBA8
|
tubulin, alpha 8
|
|
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
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
UPB1
|
ureidopropionase, beta
|
|
UPF3B
|
UPF3 regulator of nonsense transcripts homolog B (yeast)
|
|
UQCC2
|
ubiquinol-cytochrome c reductase complex assembly factor 2
|
|
VAMP1
|
vesicle-associated membrane protein 1 (synaptobrevin 1)
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
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)
|
|
VPS37A
|
vacuolar protein sorting 37 homolog A (S. cerevisiae)
|
|
VPS53
|
vacuolar protein sorting 53 homolog (S. cerevisiae)
|
|
VRK1
|
vaccinia related kinase 1
|
|
VTI1A
|
vesicle transport through interaction with t-SNAREs 1A
|
|
WDR11
|
WD repeat domain 11
|
|
WDR45
|
WD repeat domain 45
|
|
WDR62
|
WD repeat domain 62
|
|
WDR81
|
WD repeat domain 81
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
WNK1
|
WNK lysine deficient protein kinase 1
|
|
WWOX
|
WW domain containing oxidoreductase
|
|
XPA
|
xeroderma pigmentosum, complementation group A
|
|
YARS2
|
tyrosyl-tRNA synthetase 2, mitochondrial
|
|
YWHAE
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZDHHC15
|
zinc finger, DHHC-type containing 15
|
|
ZDHHC9
|
zinc finger, DHHC-type containing 9
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
|
ZFYVE27
|
zinc finger, FYVE domain containing 27
|
|
ZNF335
|
zinc finger protein 335
|
|
ZNF423
|
zinc finger protein 423
|
|
ZNF592
|
zinc finger protein 592
|
