intellectual disability Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. (Human Disease Ontology, DOID_1059)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001249
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Genes

667 genes associated with the intellectual disability phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
AASS aminoadipate-semialdehyde synthase
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ABHD5 abhydrolase domain containing 5
ACAT1 acetyl-CoA acetyltransferase 1
ACO2 aconitase 2, mitochondrial
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTB actin, beta
ACTG1 actin gamma 1
ACVR1 activin A receptor, type I
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAT3 adenosine deaminase, tRNA-specific 3
ADGRG1 adhesion G protein-coupled receptor G1
ADSL adenylosuccinate lyase
AFF2 AF4/FMR2 family, member 2
AGA aspartylglucosaminidase
AHCY adenosylhomocysteinase
AHDC1 AT hook, DNA binding motif, containing 1
AHI1 Abelson helper integration site 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
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
ALDOA aldolase A, fructose-bisphosphate
ALDOB aldolase B, fructose-bisphosphate
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALX1 ALX homeobox 1
ALX3 ALX homeobox 3
ALX4 ALX homeobox 4
AMER1 APC membrane recruitment protein 1
AMT aminomethyltransferase
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
ANKRD11 ankyrin repeat domain 11
ANO10 anoctamin 10
AP1S1 adaptor-related protein complex 1, sigma 1 subunit
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP4B1 adaptor-related protein complex 4, beta 1 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4M1 adaptor-related protein complex 4, mu 1 subunit
AP4S1 adaptor-related protein complex 4, sigma 1 subunit
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
ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL6 ADP-ribosylation factor-like 6
ARSA arylsulfatase A
ARX aristaless related homeobox
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASL argininosuccinate lyase
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ASS1 argininosuccinate synthase 1
ASXL1 additional sex combs like transcriptional regulator 1
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATL1 atlastin GTPase 1
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
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
AVPR2 arginine vasopressin receptor 2
B3GALTL beta 1,3-galactosyltransferase-like
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 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
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
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BIN1 bridging integrator 1
BLM Bloom syndrome, RecQ helicase-like
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
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C10ORF2 chromosome 10 open reading frame 2
C12ORF57 chromosome 12 open reading frame 57
C12ORF65 chromosome 12 open reading frame 65
C2CD3 C2 calcium-dependent domain containing 3
CA2 carbonic anhydrase II
CA8 carbonic anhydrase VIII
CACNG2 calcium channel, voltage-dependent, gamma subunit 2
CAMTA1 calmodulin binding transcription activator 1
CANT1 calcium activated nucleotidase 1
CASC5 cancer susceptibility candidate 5
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CBS cystathionine-beta-synthase
CC2D1A coiled-coil and C2 domain containing 1A
CC2D2A coiled-coil and C2 domain containing 2A
CCBE1 collagen and calcium binding EGF domains 1
CCDC88C coiled-coil domain containing 88C
CDH15 cadherin 15, type 1, M-cadherin (myotubule)
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDKL5 cyclin-dependent kinase-like 5
CENPJ centromere protein J
CEP135 centrosomal protein 135kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CEP57 centrosomal protein 57kDa
CEP83 centrosomal protein 83kDa
CHD2 chromodomain helicase DNA binding protein 2
CHD7 chromodomain helicase DNA binding protein 7
CHKB choline kinase beta
CHMP1A charged multivesicular body protein 1A
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CLCNKA chloride channel, voltage-sensitive Ka
CLCNKB chloride channel, voltage-sensitive Kb
CLIC2 chloride intracellular channel 2
CLN3 ceroid-lipofuscinosis, neuronal 3
CLN5 ceroid-lipofuscinosis, neuronal 5
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CNTNAP2 contactin associated protein-like 2
COA5 cytochrome c oxidase assembly factor 5
COG5 component of oligomeric golgi complex 5
COG6 component of oligomeric golgi complex 6
COG8 component of oligomeric golgi complex 8
COL4A1 collagen, type IV, alpha 1
COLEC11 collectin sub-family member 11
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
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)
COX20 COX20 cytochrome c oxidase assembly factor
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CRADD CASP2 and RIPK1 domain containing adaptor with death domain
CRBN cereblon
CREBBP CREB binding protein
CRLF1 cytokine receptor-like factor 1
CSPP1 centrosome and spindle pole associated protein 1
CTCF CCCTC-binding factor (zinc finger protein)
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSA cathepsin A
CTSD cathepsin D
CUL4B cullin 4B
CYB5R3 cytochrome b5 reductase 3
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
D2HGDH D-2-hydroxyglutarate dehydrogenase
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DARS aspartyl-tRNA synthetase
DBT dihydrolipoamide branched chain transacylase E2
DCAF17 DDB1 and CUL4 associated factor 17
DCHS1 dachsous cadherin-related 1
DCX doublecortin
DDHD2 DDHD domain containing 2
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
DEAF1 DEAF1 transcription factor
DEPDC5 DEP domain containing 5
DHCR7 7-dehydrocholesterol reductase
DHTKD1 dehydrogenase E1 and transketolase domain containing 1
DIP2B DIP2 disco-interacting protein 2 homolog B (Drosophila)
DKC1 dyskeratosis congenita 1, dyskerin
DLAT dihydrolipoamide S-acetyltransferase
DLG3 discs, large homolog 3 (Drosophila)
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
DNA2 DNA replication helicase/nuclease 2
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOCK8 dedicator of cytokinesis 8
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPYD dihydropyrimidine dehydrogenase
DPYS dihydropyrimidinase
DUOXA2 dual oxidase maturation factor 2
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EBP emopamil binding protein (sterol isomerase)
EGF epidermal growth factor
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELOVL4 ELOVL fatty acid elongase 4
EP300 E1A binding protein p300
EPB41L1 erythrocyte membrane protein band 4.1-like 1
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
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
ETHE1 ethylmalonic encephalopathy 1
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EYA1 EYA transcriptional coactivator and phosphatase 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FA2H fatty acid 2-hydroxylase
FAM126A family with sequence similarity 126, member A
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FASTKD2 FAST kinase domains 2
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF14 fibroblast growth factor 14
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FKRP fukutin related protein
FKTN fukutin
FLNA filamin A, alpha
FLNB filamin B, beta
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FMR1 fragile X mental retardation 1
FOLR1 folate receptor 1 (adult)
FOXG1 forkhead box G1
FOXP1 forkhead box P1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FTCD formimidoyltransferase cyclodeaminase
FTSJ1 FtsJ RNA methyltransferase homolog 1 (E. coli)
FUCA1 fucosidase, alpha-L- 1, tissue
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GALE UDP-galactose-4-epimerase
GALT galactose-1-phosphate uridylyltransferase
GAMT guanidinoacetate N-methyltransferase
GAN gigaxonin
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GCH1 GTP cyclohydrolase 1
GCK glucokinase (hexokinase 4)
GCSH glycine cleavage system protein H (aminomethyl carrier)
GDI1 GDP dissociation inhibitor 1
GJA1 gap junction protein, alpha 1, 43kDa
GK glycerol kinase
GLB1 galactosidase, beta 1
GLDC glycine dehydrogenase (decarboxylating)
GLI3 GLI family zinc finger 3
GLUD1 glutamate dehydrogenase 1
GLYCTK glycerate kinase
GMPPA GDP-mannose pyrophosphorylase A
GMPPB GDP-mannose pyrophosphorylase B
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GNPAT glyceronephosphate O-acyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GNS glucosamine (N-acetyl)-6-sulfatase
GPI glucose-6-phosphate isomerase
GPSM2 G-protein signaling modulator 2
GRIA3 glutamate receptor, ionotropic, AMPA 3
GRIK2 glutamate receptor, ionotropic, kainate 2
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
GRIP1 glutamate receptor interacting protein 1
GRM1 glutamate receptor, metabotropic 1
GSS glutathione synthetase
GTF2H5 general transcription factor IIH, polypeptide 5
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
GUSB glucuronidase, beta
HADH hydroxyacyl-CoA dehydrogenase
HCCS holocytochrome c synthase
HCFC1 host cell factor C1
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
HDAC4 histone deacetylase 4
HDAC6 histone deacetylase 6
HDAC8 histone deacetylase 8
HEPACAM hepatic and glial cell adhesion molecule
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HMGB3 high mobility group box 3
HPD 4-hydroxyphenylpyruvate dioxygenase
HPRT1 hypoxanthine phosphoribosyltransferase 1
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HSPG2 heparan sulfate proteoglycan 2
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFIH1 interferon induced with helicase C domain 1
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IGBP1 immunoglobulin (CD79A) binding protein 1
IGF1 insulin-like growth factor 1 (somatomedin C)
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
IQSEC2 IQ motif and Sec7 domain 2
ISPD isoprenoid synthase domain containing
ITGA7 integrin, alpha 7
IYD iodotyrosine deiodinase
JAG1 jagged 1
KANK1 KN motif and ankyrin repeat domains 1
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KCNC3 potassium channel, voltage gated Shaw related subfamily C, member 3
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNK9 potassium channel, two pore domain subfamily K, member 9
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNT1 potassium channel, sodium activated subfamily T, member 1
KCTD7 potassium channel tetramerization domain containing 7
KDM5C lysine (K)-specific demethylase 5C
KIAA0226 KIAA0226
KIAA2022 KIAA2022
KIF11 kinesin family member 11
KIF1A kinesin family member 1A
KIF1BP KIF1 binding protein
KIF4A kinesin family member 4A
KIF7 kinesin family member 7
KIRREL3 kin of IRRE like 3 (Drosophila)
KMT2A lysine (K)-specific methyltransferase 2A
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
LAMP2 lysosomal-associated membrane protein 2
LARGE like-glycosyltransferase
LARP7 La ribonucleoprotein domain family, member 7
LBR lamin B receptor
LHX3 LIM homeobox 3
LMNA lamin A/C
LRP5 low density lipoprotein receptor-related protein 5
LYST lysosomal trafficking regulator
LZTFL1 leucine zipper transcription factor-like 1
MAGEL2 melanoma antigen family L2
MAN1B1 mannosidase, alpha, class 1B, member 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MANBA mannosidase, beta A, lysosomal
MAOA monoamine oxidase A
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MAT1A methionine adenosyltransferase I, alpha
MBD5 methyl-CpG binding domain protein 5
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MCOLN1 mucolipin 1
MCPH1 microcephalin 1
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MED23 mediator complex subunit 23
MEF2C myocyte enhancer factor 2C
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGME1 mitochondrial genome maintenance exonuclease 1
MGP matrix Gla protein
MID2 midline 2
MIR17HG miR-17-92 cluster host gene
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MOCS1 molybdenum cofactor synthesis 1
MPLKIP M-phase specific PLK1 interacting protein
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
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
NBN nibrin
NDE1 nudE neurodevelopment protein 1
NDP Norrie disease (pseudoglioma)
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
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
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
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)
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)
NEU1 sialidase 1 (lysosomal sialidase)
NF1 neurofibromin 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NGF nerve growth factor (beta polypeptide)
NHP2 NHP2 ribonucleoprotein
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NIN ninein (GSK3B interacting protein)
NIPBL Nipped-B homolog (Drosophila)
NKX2-5 NK2 homeobox 5
NLGN4X neuroligin 4, X-linked
NOP10 NOP10 ribonucleoprotein
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NR2F1 nuclear receptor subfamily 2, group F, member 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRXN1 neurexin 1
NSD1 nuclear receptor binding SET domain protein 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NT5C2 5'-nucleotidase, cytosolic II
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NUP62 nucleoporin 62kDa
OCLN occludin
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OPHN1 oligophrenin 1
ORC1 origin recognition complex, subunit 1
OTC ornithine carbamoyltransferase
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAH phenylalanine hydroxylase
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PAX1 paired box 1
PAX2 paired box 2
PAX3 paired box 3
PAX6 paired box 6
PC pyruvate carboxylase
PCNT pericentrin
PDE4D phosphodiesterase 4D, cAMP-specific
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHX pyruvate dehydrogenase complex, component X
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
PET100 PET100 homolog (S. cerevisiae)
PEX1 peroxisomal biogenesis factor 1
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX5 peroxisomal biogenesis factor 5
PEX7 peroxisomal biogenesis factor 7
PGAP2 post-GPI attachment to proteins 2
PGK1 phosphoglycerate kinase 1
PGM3 phosphoglucomutase 3
PHF6 PHD finger protein 6
PHGDH phosphoglycerate dehydrogenase
PIEZO2 piezo-type mechanosensitive ion channel component 2
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)
PLP1 proteolipid protein 1
PNKP polynucleotide kinase 3'-phosphatase
PNP purine nucleoside phosphorylase
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PORCN porcupine homolog (Drosophila)
POU1F1 POU class 1 homeobox 1
PPT1 palmitoyl-protein thioesterase 1
PQBP1 polyglutamine binding protein 1
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRODH proline dehydrogenase (oxidase) 1
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRSS12 protease, serine, 12 (neurotrypsin, motopsin)
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTCH1 patched 1
PTCH2 patched 2
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
RAB23 RAB23, 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)
RAB40AL RAB40A, member RAS oncogene family-like
RAD50 RAD50 homolog (S. cerevisiae)
RAI1 retinoic acid induced 1
RARB retinoic acid receptor, beta
RBBP8 retinoblastoma binding protein 8
RBM28 RNA binding motif protein 28
RECQL4 RecQ protein-like 4
RIT1 Ras-like without CAAX 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROGDI rogdi homolog (Drosophila)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGRIP1L RPGRIP1-like
RPS19 ribosomal protein S19
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RTTN rotatin
SACS sacsin molecular chaperone
SALL1 spalt-like transcription factor 1
SAR1B secretion associated, Ras related GTPase 1B
SATB2 SATB homeobox 2
SBDS Shwachman-Bodian-Diamond syndrome
SC5D sterol-C5-desaturase
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SERAC1 serine active site containing 1
SETBP1 SET binding protein 1
SFXN4 sideroflexin 4
SGSH N-sulfoglucosamine sulfohydrolase
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHH sonic hedgehog
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SHROOM4 shroom family member 4
SIL1 SIL1 nucleotide exchange factor
SIX3 SIX homeobox 3
SKI SKI proto-oncogene
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
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
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1
SLC36A2 solute carrier family 36 (proton/amino acid symporter), member 2
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLC6A20 solute carrier family 6 (proline IMINO transporter), member 20
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SLITRK6 SLIT and NTRK-like family, 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
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMOC1 SPARC related modular calcium binding 1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SMS spermine synthase
SNAP29 synaptosomal-associated protein, 29kDa
SOBP sine oculis binding protein homolog (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
SOX3 SRY (sex determining region Y)-box 3
SPAST spastin
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG20 spastic paraplegia 20 (Troyer syndrome)
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
SPTAN1 spectrin, alpha, non-erythrocytic 1
SRD5A3 steroid 5 alpha-reductase 3
SRPX2 sushi-repeat containing protein, X-linked 2
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
STAC3 SH3 and cysteine rich domain 3
STIL SCL/TAL1 interrupting locus
STRA6 stimulated by retinoic acid 6
STT3A STT3A, subunit of the oligosaccharyltransferase complex (catalytic)
STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
STXBP1 syntaxin binding protein 1
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUCLG1 succinate-CoA ligase, alpha subunit
SUFU suppressor of fused homolog (Drosophila)
SUMF1 sulfatase modifying factor 1
SURF1 surfeit 1
SYNGAP1 synaptic Ras GTPase activating protein 1
SYP synaptophysin
TAC3 tachykinin 3
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
TAT tyrosine aminotransferase
TBC1D20 TBC1 domain family, member 20
TBC1D24 TBC1 domain family, member 24
TBC1D7 TBC1 domain family, member 7
TBCE tubulin folding cofactor E
TBX1 T-box 1
TCF4 transcription factor 4
TCN2 transcobalamin II
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN3 tectonic family member 3
TECR trans-2,3-enoyl-CoA reductase
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TG thyroglobulin
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THOC6 THO complex 6
TK2 thymidine kinase 2, mitochondrial
TMCO1 transmembrane and coiled-coil domains 1
TMEM216 transmembrane protein 216
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TMLHE trimethyllysine hydroxylase, epsilon
TP63 tumor protein p63
TRAPPC9 trafficking protein particle complex 9
TREX1 three prime repair exonuclease 1
TRH thyrotropin-releasing hormone
TRIM32 tripartite motif containing 32
TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae)
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSHB thyroid stimulating hormone, beta
TSHR thyroid stimulating hormone receptor
TSPAN7 tetraspanin 7
TTC8 tetratricopeptide repeat domain 8
TTI2 TELO2 interacting protein 2
TUBA1A tubulin, alpha 1a
TUBA8 tubulin, alpha 8
TUBB2B tubulin, beta 2B class IIb
TUBB3 tubulin, beta 3 class III
TUBB4A tubulin, beta 4A class IVa
TUBGCP6 tubulin, gamma complex associated protein 6
TUSC3 tumor suppressor candidate 3
TWIST1 twist family bHLH transcription factor 1
UBB ubiquitin B
UBE2A ubiquitin-conjugating enzyme E2A
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UPB1 ureidopropionase, beta
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
UQCRQ ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
UROC1 urocanate hydratase 1
USP9X ubiquitin specific peptidase 9, X-linked
VLDLR very low density lipoprotein receptor
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)
VRK1 vaccinia related kinase 1
WDPCP WD repeat containing planar cell polarity effector
WDR45 WD repeat domain 45
WDR62 WD repeat domain 62
WDR81 WD repeat domain 81
WFS1 Wolfram syndrome 1 (wolframin)
WNT5A wingless-type MMTV integration site family, member 5A
WWOX WW domain containing oxidoreductase
XPA xeroderma pigmentosum, complementation group A
XPNPEP3 X-prolyl aminopeptidase 3, mitochondrial
XYLT1 xylosyltransferase I
YAP1 Yes-associated protein 1
ZBTB16 zinc finger and BTB domain containing 16
ZBTB18 zinc finger and BTB domain containing 18
ZBTB20 zinc finger and BTB domain containing 20
ZBTB24 zinc finger and BTB domain containing 24
ZC4H2 zinc finger, C4H2 domain containing
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
ZIC2 Zic family member 2
ZNF592 zinc finger protein 592
ZNF711 zinc finger protein 711
ZNF81 zinc finger protein 81
ZSWIM6 zinc finger, SWIM-type containing 6