| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
AASS
|
aminoadipate-semialdehyde synthase
|
|
ABAT
|
4-aminobutyrate aminotransferase
|
|
ABCA5
|
ATP-binding cassette, sub-family A (ABC1), member 5
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
|
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
|
|
ACO2
|
aconitase 2, mitochondrial
|
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ACSF3
|
acyl-CoA synthetase family member 3
|
|
ACTA2
|
actin, alpha 2, smooth muscle, aorta
|
|
ACTB
|
actin, beta
|
|
ACTG1
|
actin gamma 1
|
|
ACVR1
|
activin A receptor, type I
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
ACY1
|
aminoacylase 1
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
ADCK3
|
aarF domain containing kinase 3
|
|
ADGRG1
|
adhesion G protein-coupled receptor G1
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
ADK
|
adenosine kinase
|
|
ADNP
|
activity-dependent neuroprotector homeobox
|
|
ADRA2B
|
adrenoceptor alpha 2B
|
|
ADSL
|
adenylosuccinate lyase
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
AGA
|
aspartylglucosaminidase
|
|
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
|
|
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
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
|
ALDH4A1
|
aldehyde dehydrogenase 4 family, member A1
|
|
ALDH5A1
|
aldehyde dehydrogenase 5 family, member A1
|
|
ALDH7A1
|
aldehyde dehydrogenase 7 family, member A1
|
|
ALDOB
|
aldolase B, fructose-bisphosphate
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
ALG11
|
ALG11, alpha-1,2-mannosyltransferase
|
|
ALG13
|
ALG13, UDP-N-acetylglucosaminyltransferase subunit
|
|
ALG2
|
ALG2, alpha-1,3/1,6-mannosyltransferase
|
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
|
ALG6
|
ALG6, alpha-1,3-glucosyltransferase
|
|
ALG9
|
ALG9, alpha-1,2-mannosyltransferase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
AMACR
|
alpha-methylacyl-CoA racemase
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
AMPD2
|
adenosine monophosphate deaminase 2
|
|
AMT
|
aminomethyltransferase
|
|
ANK1
|
ankyrin 1, erythrocytic
|
|
ANK3
|
ankyrin 3, node of Ranvier (ankyrin G)
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ANOS1
|
anosmin 1
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
AP4E1
|
adaptor-related protein complex 4, epsilon 1 subunit
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
AQP2
|
aquaporin 2 (collecting duct)
|
|
ARFGEF2
|
ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
|
|
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
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ASCL1
|
achaete-scute family bHLH transcription factor 1
|
|
ASL
|
argininosuccinate lyase
|
|
ASNS
|
asparagine synthetase (glutamine-hydrolyzing)
|
|
ASPA
|
aspartoacylase
|
|
ASPM
|
asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
|
|
ASPNAT
|
aspartate N-acetyltransferase
|
|
ASS1
|
argininosuccinate synthase 1
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATIC
|
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATN1
|
atrophin 1
|
|
ATP10A
|
ATPase, class V, type 10A
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP2A2
|
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
|
|
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
|
|
ATR
|
ATR serine/threonine kinase
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
ATXN10
|
ataxin 10
|
|
AUH
|
AU RNA binding protein/enoyl-CoA hydratase
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B3GNT1
|
|
|
B9D1
|
B9 protein domain 1
|
|
BCAP31
|
B-cell receptor-associated protein 31
|
|
BCKDHA
|
branched chain keto acid dehydrogenase E1, alpha polypeptide
|
|
BCKDHB
|
branched chain keto acid dehydrogenase E1, beta polypeptide
|
|
BCKDK
|
branched chain ketoacid dehydrogenase kinase
|
|
BCOR
|
BCL6 corepressor
|
|
BCR
|
breakpoint cluster region
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BMP2
|
bone morphogenetic protein 2
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BOLA3
|
bolA family member 3
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRAT1
|
BRCA1-associated ATM activator 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
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
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CA8
|
carbonic anhydrase VIII
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1D
|
calcium channel, voltage-dependent, L type, alpha 1D subunit
|
|
CAMKMT
|
calmodulin-lysine N-methyltransferase
|
|
CARD9
|
caspase recruitment domain family, member 9
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CASQ2
|
calsequestrin 2 (cardiac muscle)
|
|
CASR
|
calcium-sensing receptor
|
|
CBS
|
cystathionine-beta-synthase
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CCDC88C
|
coiled-coil domain containing 88C
|
|
CCM2
|
cerebral cavernous malformation 2
|
|
CCND2
|
cyclin D2
|
|
CD96
|
CD96 molecule
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CEP164
|
centrosomal protein 164kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CHD2
|
chromodomain helicase DNA binding protein 2
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHKB
|
choline kinase beta
|
|
CHL1
|
cell adhesion molecule L1-like
|
|
CHN1
|
chimerin 1
|
|
CHRNA2
|
cholinergic receptor, nicotinic, alpha 2 (neuronal)
|
|
CHRNA4
|
cholinergic receptor, nicotinic, alpha 4 (neuronal)
|
|
CHRNA7
|
cholinergic receptor, nicotinic, alpha 7 (neuronal)
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLCF1
|
cardiotrophin-like cytokine factor 1
|
|
CLDN16
|
claudin 16
|
|
CLEC7A
|
C-type lectin domain family 7, member A
|
|
CLIC2
|
chloride intracellular channel 2
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CLN5
|
ceroid-lipofuscinosis, neuronal 5
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
|
CLPP
|
caseinolytic mitochondrial matrix peptidase proteolytic subunit
|
|
CNTN2
|
contactin 2 (axonal)
|
|
CNTN4
|
contactin 4
|
|
CNTNAP2
|
contactin associated protein-like 2
|
|
COA5
|
cytochrome c oxidase assembly factor 5
|
|
COG4
|
component of oligomeric golgi complex 4
|
|
COG6
|
component of oligomeric golgi complex 6
|
|
COG8
|
component of oligomeric golgi complex 8
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL4A2
|
collagen, type IV, alpha 2
|
|
COMT
|
catechol-O-methyltransferase
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
COQ6
|
coenzyme Q6 monooxygenase
|
|
COQ9
|
coenzyme Q9
|
|
COX1
|
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX14
|
COX14 cytochrome c oxidase assembly factor
|
|
COX15
|
cytochrome c oxidase assembly homolog 15 (yeast)
|
|
COX2
|
|
|
COX20
|
COX20 cytochrome c oxidase assembly factor
|
|
COX3
|
|
|
COX6B1
|
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
CPA6
|
carboxypeptidase A6
|
|
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
|
|
CRH
|
corticotropin releasing hormone
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CRLF1
|
cytokine receptor-like factor 1
|
|
CRX
|
cone-rod homeobox
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
CSTB
|
cystatin B (stefin B)
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTSA
|
cathepsin A
|
|
CTSD
|
cathepsin D
|
|
CTSF
|
cathepsin F
|
|
CUL4B
|
cullin 4B
|
|
CYFIP1
|
cytoplasmic FMR1 interacting protein 1
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, polypeptide 1
|
|
D2HGDH
|
D-2-hydroxyglutarate dehydrogenase
|
|
DBH
|
dopamine beta-hydroxylase (dopamine beta-monooxygenase)
|
|
DBT
|
dihydrolipoamide branched chain transacylase E2
|
|
DCX
|
doublecortin
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHFR
|
dihydrofolate reductase
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DLD
|
dihydrolipoamide dehydrogenase
|
|
DLG3
|
discs, large homolog 3 (Drosophila)
|
|
DNAJC5
|
DnaJ (Hsp40) homolog, subfamily C, member 5
|
|
DNAJC6
|
DnaJ (Hsp40) homolog, subfamily C, member 6
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
DNMT3A
|
DNA (cytosine-5-)-methyltransferase 3 alpha
|
|
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
|
|
DPYS
|
dihydropyrimidinase
|
|
DSG4
|
desmoglein 4
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
DYRK1A
|
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
|
|
EARS2
|
glutamyl-tRNA synthetase 2, mitochondrial
|
|
ECM1
|
extracellular matrix protein 1
|
|
EDN3
|
endothelin 3
|
|
EFTUD2
|
elongation factor Tu GTP binding domain containing 2
|
|
EGF
|
epidermal growth factor
|
|
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
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
EMG1
|
EMG1 N1-specific pseudouridine methyltransferase
|
|
EMX2
|
empty spiracles homeobox 2
|
|
ENG
|
endoglin
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
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
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ERLIN2
|
ER lipid raft associated 2
|
|
ERMARD
|
ER membrane-associated RNA degradation
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
ETHE1
|
ethylmalonic encephalopathy 1
|
|
EXOSC3
|
exosome component 3
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FADD
|
Fas (TNFRSF6)-associated via death domain
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAM126A
|
family with sequence similarity 126, member A
|
|
FAM20A
|
family with sequence similarity 20, member A
|
|
FAM58A
|
family with sequence similarity 58, member A
|
|
FARS2
|
phenylalanyl-tRNA synthetase 2, mitochondrial
|
|
FASTKD2
|
FAST kinase domains 2
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBP1
|
fructose-1,6-bisphosphatase 1
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGF17
|
fibroblast growth factor 17
|
|
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
|
|
FH
|
fumarate hydratase
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
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
|
|
FOLR1
|
folate receptor 1 (adult)
|
|
FOXG1
|
forkhead box G1
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FTO
|
fat mass and obesity associated
|
|
FTSJ1
|
FtsJ RNA methyltransferase homolog 1 (E. coli)
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
FXYD2
|
FXYD domain containing ion transport regulator 2
|
|
GABRA1
|
gamma-aminobutyric acid (GABA) A receptor, alpha 1
|
|
GABRB3
|
gamma-aminobutyric acid (GABA) A receptor, beta 3
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GABRG2
|
gamma-aminobutyric acid (GABA) A receptor, gamma 2
|
|
GAD1
|
glutamate decarboxylase 1 (brain, 67kDa)
|
|
GALC
|
galactosylceramidase
|
|
GAMT
|
guanidinoacetate N-methyltransferase
|
|
GATA3
|
GATA binding protein 3
|
|
GATA4
|
GATA binding protein 4
|
|
GATA6
|
GATA binding protein 6
|
|
GBA
|
glucosidase, beta, acid
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GCM2
|
glial cells missing homolog 2 (Drosophila)
|
|
GCSH
|
glycine cleavage system protein H (aminomethyl carrier)
|
|
GDF2
|
growth differentiation factor 2
|
|
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
|
|
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
|
|
GLRA1
|
glycine receptor, alpha 1
|
|
GLRB
|
glycine receptor, beta
|
|
GLUD1
|
glutamate dehydrogenase 1
|
|
GLUL
|
glutamate-ammonia ligase
|
|
GLYCTK
|
glycerate kinase
|
|
GM2A
|
GM2 ganglioside activator
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNAO1
|
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GNAS
|
GNAS complex locus
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GOSR2
|
golgi SNAP receptor complex member 2
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GPHN
|
gephyrin
|
|
GPSM2
|
G-protein signaling modulator 2
|
|
GRIA3
|
glutamate receptor, ionotropic, AMPA 3
|
|
GRIN2A
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2A
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
GRN
|
granulin
|
|
GSS
|
glutathione synthetase
|
|
GUCY1A3
|
guanylate cyclase 1, soluble, alpha 3
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
GYS1
|
glycogen synthase 1 (muscle)
|
|
GYS2
|
glycogen synthase 2 (liver)
|
|
HADH
|
hydroxyacyl-CoA dehydrogenase
|
|
HAX1
|
HCLS1 associated protein X-1
|
|
HCCS
|
holocytochrome c synthase
|
|
HCN1
|
hyperpolarization activated cyclic nucleotide gated potassium channel 1
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC8
|
histone deacetylase 8
|
|
HEPACAM
|
hepatic and glial cell adhesion molecule
|
|
HERC2
|
HECT and RLD domain containing E3 ubiquitin protein ligase 2
|
|
HESX1
|
HESX homeobox 1
|
|
HEXA
|
hexosaminidase A (alpha polypeptide)
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
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
|
|
HLCS
|
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HMGCS2
|
3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
|
|
HNF1B
|
HNF1 homeobox B
|
|
HPD
|
4-hydroxyphenylpyruvate dioxygenase
|
|
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)
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IDS
|
iduronate 2-sulfatase
|
|
IER3IP1
|
immediate early response 3 interacting protein 1
|
|
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
|
|
IL10
|
interleukin 10
|
|
IL12B
|
interleukin 12B
|
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
|
IL17F
|
interleukin 17F
|
|
IL17RA
|
interleukin 17 receptor A
|
|
IL17RD
|
interleukin 17 receptor D
|
|
IL1RAPL1
|
interleukin 1 receptor accessory protein-like 1
|
|
IL23R
|
interleukin 23 receptor
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
INS
|
insulin
|
|
INSR
|
insulin receptor
|
|
IQCB1
|
IQ motif containing B1
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
IVD
|
isovaleryl-CoA dehydrogenase
|
|
JAK2
|
Janus kinase 2
|
|
JAM3
|
junctional adhesion molecule 3
|
|
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
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
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
|
|
KCNMA1
|
potassium channel, calcium activated large conductance subfamily M alpha, member 1
|
|
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
|
|
KCTD7
|
potassium channel tetramerization domain containing 7
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIAA0226
|
KIAA0226
|
|
KIAA2022
|
KIAA2022
|
|
KIF11
|
kinesin family member 11
|
|
KIF1BP
|
KIF1 binding protein
|
|
KIF2A
|
kinesin heavy chain member 2A
|
|
KIF4A
|
kinesin family member 4A
|
|
KIF5C
|
kinesin family member 5C
|
|
KIF7
|
kinesin family member 7
|
|
KISS1R
|
KISS1 receptor
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KPTN
|
kaptin (actin binding protein)
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRIT1
|
KRIT1, ankyrin repeat containing
|
|
KRT81
|
keratin 81, type II
|
|
KRT83
|
keratin 83, type II
|
|
KRT86
|
keratin 86, type II
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
L2HGDH
|
L-2-hydroxyglutarate dehydrogenase
|
|
LAMA2
|
laminin, alpha 2
|
|
LAMB1
|
laminin, beta 1
|
|
LAMC3
|
laminin, gamma 3
|
|
LARGE
|
like-glycosyltransferase
|
|
LBR
|
lamin B receptor
|
|
LCA5
|
Leber congenital amaurosis 5
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LGI1
|
leucine-rich, glioma inactivated 1
|
|
LHX1
|
LIM homeobox 1
|
|
LHX4
|
LIM homeobox 4
|
|
LIAS
|
lipoic acid synthetase
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LMBRD1
|
LMBR1 domain containing 1
|
|
LMNB2
|
lamin B2
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
LRPPRC
|
leucine-rich pentatricopeptide repeat containing
|
|
LYST
|
lysosomal trafficking regulator
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MAMLD1
|
mastermind-like domain containing 1
|
|
MAN1B1
|
mannosidase, alpha, class 1B, member 1
|
|
MANBA
|
mannosidase, beta A, lysosomal
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MC2R
|
melanocortin 2 receptor (adrenocorticotropic hormone)
|
|
MCCC1
|
methylcrotonoyl-CoA carboxylase 1 (alpha)
|
|
MCPH1
|
microcephalin 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MED17
|
mediator complex subunit 17
|
|
MEF2C
|
myocyte enhancer factor 2C
|
|
MEFV
|
Mediterranean fever
|
|
MEGF10
|
multiple EGF-like-domains 10
|
|
MEIS2
|
Meis homeobox 2
|
|
METTL23
|
methyltransferase like 23
|
|
MFSD8
|
major facilitator superfamily domain containing 8
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MGP
|
matrix Gla protein
|
|
MID2
|
midline 2
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MLC1
|
megalencephalic leukoencephalopathy with subcortical cysts 1
|
|
MLH1
|
mutL homolog 1
|
|
MLX
|
MLX, MAX dimerization protein
|
|
MLYCD
|
malonyl-CoA decarboxylase
|
|
MMAA
|
methylmalonic aciduria (cobalamin deficiency) cblA type
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MMADHC
|
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
|
|
MOCS1
|
molybdenum cofactor synthesis 1
|
|
MOGS
|
mannosyl-oligosaccharide glucosidase
|
|
MPC1
|
mitochondrial pyruvate carrier 1
|
|
MPDU1
|
mannose-P-dolichol utilization defect 1
|
|
MPDZ
|
multiple PDZ domain protein
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MPST
|
mercaptopyruvate sulfurtransferase
|
|
MRPS22
|
mitochondrial ribosomal protein S22
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MSX2
|
msh homeobox 2
|
|
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-TP
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MTFMT
|
mitochondrial methionyl-tRNA formyltransferase
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTM1
|
myotubularin 1
|
|
MTO1
|
mitochondrial tRNA translation optimization 1
|
|
MTR
|
5-methyltetrahydrofolate-homocysteine methyltransferase
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
MUT
|
methylmalonyl CoA mutase
|
|
MVK
|
mevalonate kinase
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
MYO5A
|
myosin VA (heavy chain 12, myoxin)
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NAGLU
|
N-acetylglucosaminidase, alpha
|
|
NAGS
|
N-acetylglutamate synthase
|
|
NALCN
|
sodium leak channel, non selective
|
|
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
|
|
NELFA
|
negative elongation factor complex member A
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NF1
|
neurofibromin 1
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NHLRC1
|
NHL repeat containing E3 ubiquitin protein ligase 1
|
|
NIN
|
ninein (GSK3B interacting protein)
|
|
NIPA1
|
non imprinted in Prader-Willi/Angelman syndrome 1
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NLGN4X
|
neuroligin 4, X-linked
|
|
NMNAT1
|
nicotinamide nucleotide adenylyltransferase 1
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
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
|
|
NTNG1
|
netrin G1
|
|
NUBPL
|
nucleotide binding protein-like
|
|
OCA2
|
oculocutaneous albinism II
|
|
OCLN
|
occludin
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPHN1
|
oligophrenin 1
|
|
OTC
|
ornithine carbamoyltransferase
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PAH
|
phenylalanine hydroxylase
|
|
PAK3
|
p21 protein (Cdc42/Rac)-activated kinase 3
|
|
PAX2
|
paired box 2
|
|
PC
|
pyruvate carboxylase
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PCDH19
|
protocadherin 19
|
|
PCK1
|
phosphoenolpyruvate carboxykinase 1 (soluble)
|
|
PCNT
|
pericentrin
|
|
PDCD10
|
programmed cell death 10
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PDHX
|
pyruvate dehydrogenase complex, component X
|
|
PDP1
|
pyruvate dehyrogenase phosphatase catalytic subunit 1
|
|
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
|
|
PGAP1
|
post-GPI attachment to proteins 1
|
|
PGAP2
|
post-GPI attachment to proteins 2
|
|
PGAP3
|
post-GPI attachment to proteins 3
|
|
PGK1
|
phosphoglycerate kinase 1
|
|
PHF6
|
PHD finger protein 6
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIGM
|
phosphatidylinositol glycan anchor biosynthesis, class M
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
PIGO
|
phosphatidylinositol glycan anchor biosynthesis, class O
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLCB1
|
phospholipase C, beta 1 (phosphoinositide-specific)
|
|
PLP1
|
proteolipid protein 1
|
|
PMM2
|
phosphomannomutase 2
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PNPO
|
pyridoxamine 5'-phosphate oxidase
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
POMC
|
proopiomelanocortin
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMGNT2
|
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
|
|
POMK
|
protein-O-mannose kinase
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
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)
|
|
PRICKLE1
|
prickle homolog 1 (Drosophila)
|
|
PRICKLE2
|
prickle homolog 2 (Drosophila)
|
|
PROC
|
protein C (inactivator of coagulation factors Va and VIIIa)
|
|
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
|
|
PRTN3
|
proteinase 3
|
|
PSAP
|
prosaposin
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
PSEN1
|
presenilin 1
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PTCH1
|
patched 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTF1A
|
pancreas specific transcription factor, 1a
|
|
PTH
|
parathyroid hormone
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
|
PVRL1
|
poliovirus receptor-related 1 (herpesvirus entry mediator C)
|
|
QARS
|
glutaminyl-tRNA synthetase
|
|
QDPR
|
quinoid dihydropteridine reductase
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB27A
|
RAB27A, member RAS oncogene family
|
|
RAB39B
|
RAB39B, 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)
|
|
RAI1
|
retinoic acid induced 1
|
|
RANBP2
|
RAN binding protein 2
|
|
RARS2
|
arginyl-tRNA synthetase 2, mitochondrial
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
RD3
|
retinal degeneration 3
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RECQL4
|
RecQ protein-like 4
|
|
RET
|
ret proto-oncogene
|
|
RFT1
|
RFT1 homolog (S. cerevisiae)
|
|
RNASEH2A
|
ribonuclease H2, subunit A
|
|
RNASEH2B
|
ribonuclease H2, subunit B
|
|
RNASEH2C
|
ribonuclease H2, subunit C
|
|
RNASET2
|
ribonuclease T2
|
|
RNF213
|
ring finger protein 213
|
|
RNR1
|
RNA, ribosomal cluster 1
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
ROBO3
|
roundabout, axon guidance receptor, homolog 3 (Drosophila)
|
|
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)
|
|
RTTN
|
rotatin
|
|
RYR2
|
ryanodine receptor 2 (cardiac)
|
|
SAMHD1
|
SAM domain and HD domain 1
|
|
SATB2
|
SATB homeobox 2
|
|
SC5D
|
sterol-C5-desaturase
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN1B
|
sodium channel, voltage gated, type I beta subunit
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHAF1
|
succinate dehydrogenase complex assembly factor 1
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
SEPSECS
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
|
|
SERAC1
|
serine active site containing 1
|
|
SERPINI1
|
serpin peptidase inhibitor, clade I (neuroserpin), member 1
|
|
SETBP1
|
SET binding protein 1
|
|
SGSH
|
N-sulfoglucosamine sulfohydrolase
|
|
SH2B1
|
SH2B adaptor protein 1
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SHH
|
sonic hedgehog
|
|
SIX3
|
SIX homeobox 3
|
|
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
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC13A5
|
solute carrier family 13 (sodium-dependent citrate transporter), member 5
|
|
SLC16A1
|
solute carrier family 16 (monocarboxylate transporter), member 1
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC19A3
|
solute carrier family 19 (thiamine transporter), member 3
|
|
SLC1A3
|
solute carrier family 1 (glial high affinity glutamate transporter), member 3
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC25A1
|
solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
|
|
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
|
|
SLC25A20
|
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
|
|
SLC25A22
|
solute carrier family 25 (mitochondrial carrier: glutamate), member 22
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC33A1
|
solute carrier family 33 (acetyl-CoA transporter), member 1
|
|
SLC35A2
|
solute carrier family 35 (UDP-galactose transporter), member A2
|
|
SLC35A3
|
solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
|
|
SLC35C1
|
solute carrier family 35 (GDP-fucose transporter), member C1
|
|
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
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLC6A5
|
solute carrier family 6 (neurotransmitter transporter), member 5
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
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
|
|
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
|
|
SMS
|
spermine synthase
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SNIP1
|
Smad nuclear interacting protein 1
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPINK5
|
serine peptidase inhibitor, Kazal type 5
|
|
SPR
|
sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
SPTAN1
|
spectrin, alpha, non-erythrocytic 1
|
|
SRPX2
|
sushi-repeat containing protein, X-linked 2
|
|
ST3GAL3
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
|
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
|
STAMBP
|
STAM binding protein
|
|
STAT1
|
signal transducer and activator of transcription 1, 91kDa
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
STS
|
steroid sulfatase (microsomal), isozyme S
|
|
STT3A
|
STT3A, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
STT3B
|
STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
STX11
|
syntaxin 11
|
|
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
|
|
SYN1
|
synapsin I
|
|
SYNGAP1
|
synaptic Ras GTPase activating protein 1
|
|
SYP
|
synaptophysin
|
|
SZT2
|
seizure threshold 2 homolog (mouse)
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
|
TACR3
|
tachykinin receptor 3
|
|
TAT
|
tyrosine aminotransferase
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBCE
|
tubulin folding cofactor E
|
|
TBP
|
TATA box binding protein
|
|
TBX1
|
T-box 1
|
|
TCF4
|
transcription factor 4
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TCTN1
|
tectonic family member 1
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TECPR2
|
tectonin beta-propeller repeat containing 2
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
THPO
|
thrombopoietin
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TLR4
|
toll-like receptor 4
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM165
|
transmembrane protein 165
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM5
|
transmembrane protein 5
|
|
TMEM67
|
transmembrane protein 67
|
|
TMEM70
|
transmembrane protein 70
|
|
TMLHE
|
trimethyllysine hydroxylase, epsilon
|
|
TP53
|
tumor protein p53
|
|
TPK1
|
thiamin pyrophosphokinase 1
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TRAF3IP2
|
TRAF3 interacting protein 2
|
|
TRAPPC9
|
trafficking protein particle complex 9
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRPM6
|
transient receptor potential cation channel, subfamily M, member 6
|
|
TRPV3
|
transient receptor potential cation channel, subfamily V, member 3
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TSEN2
|
TSEN2 tRNA splicing endonuclease subunit
|
|
TSEN54
|
TSEN54 tRNA splicing endonuclease subunit
|
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
|
TTR
|
transthyretin
|
|
TUBA1A
|
tubulin, alpha 1a
|
|
TUBA8
|
tubulin, alpha 8
|
|
TUBB2A
|
tubulin, beta 2A class IIa
|
|
TUBB2B
|
tubulin, beta 2B class IIb
|
|
TUBB3
|
tubulin, beta 3 class III
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
TUBG1
|
tubulin, gamma 1
|
|
TUBGCP6
|
tubulin, gamma complex associated protein 6
|
|
TULP1
|
tubby like protein 1
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
UBB
|
ubiquitin B
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
UGT1A1
|
UDP glucuronosyltransferase 1 family, polypeptide A1
|
|
UPB1
|
ureidopropionase, beta
|
|
UPF3B
|
UPF3 regulator of nonsense transcripts homolog B (yeast)
|
|
UQCC2
|
ubiquinol-cytochrome c reductase complex assembly factor 2
|
|
VARS2
|
valyl-tRNA synthetase 2, mitochondrial
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VPS53
|
vacuolar protein sorting 53 homolog (S. cerevisiae)
|
|
VRK1
|
vaccinia related kinase 1
|
|
WDR11
|
WD repeat domain 11
|
|
WDR45
|
WD repeat domain 45
|
|
WDR62
|
WD repeat domain 62
|
|
WDR81
|
WD repeat domain 81
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
WWOX
|
WW domain containing oxidoreductase
|
|
XK
|
X-linked Kx blood group
|
|
XPNPEP3
|
X-prolyl aminopeptidase 3, mitochondrial
|
|
YWHAE
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
|
|
ZBTB18
|
zinc finger and BTB domain containing 18
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZDHHC9
|
zinc finger, DHHC-type containing 9
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZNF423
|
zinc finger protein 423
|
|
ZSWIM6
|
zinc finger, SWIM-type containing 6
|
