abnormality of higher mental function Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Cognitive, psychiatric or memory anomaly. (Human Phenotype Ontology, HP_0011446)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011446
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Genes

1166 genes associated with the abnormality of higher mental function phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

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
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7
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
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ABHD12 abhydrolase domain containing 12
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
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTB actin, beta
ACTG1 actin gamma 1
ACVR1 activin A receptor, type I
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTSL2 ADAMTS-like 2
ADAR adenosine deaminase, RNA-specific
ADCY5 adenylate cyclase 5
ADK adenosine kinase
ADRA2B adrenoceptor alpha 2B
AFG3L2 AFG3-like AAA ATPase 2
AGA aspartylglucosaminidase
AGGF1 angiogenic factor with G patch and FHA domains 1
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGTR2 angiotensin II receptor, type 2
AHI1 Abelson helper integration site 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIP aryl hydrocarbon receptor interacting protein
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
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
ALDOB aldolase B, fructose-bisphosphate
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG12 ALG12, alpha-1,6-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
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ALX4 ALX homeobox 4
AMER1 APC membrane recruitment protein 1
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
AMN amnion associated transmembrane protein
AMT aminomethyltransferase
ANK1 ankyrin 1, erythrocytic
ANKRD11 ankyrin repeat domain 11
ANOS1 anosmin 1
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP4B1 adaptor-related protein complex 4, beta 1 subunit
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
APTX aprataxin
AR androgen receptor
ARG1 arginase 1
ARHGAP31 Rho GTPase activating protein 31
ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL13B ADP-ribosylation factor-like 13B
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
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
ASPA aspartoacylase
ASS1 argininosuccinate synthase 1
ASXL1 additional sex combs like transcriptional regulator 1
ATCAY ataxia, cerebellar, Cayman type
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
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
ATRX alpha thalassemia/mental retardation syndrome X-linked
ATXN1 ataxin 1
ATXN10 ataxin 10
ATXN2 ataxin 2
ATXN3 ataxin 3
ATXN7 ataxin 7
ATXN8 ataxin 8
ATXN8OS ATXN8 opposite strand (non-protein coding)
AUH AU RNA binding protein/enoyl-CoA hydratase
AVP arginine vasopressin
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B3GNT1
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
B9D1 B9 protein domain 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBIP1 BBSome interacting protein 1
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide
BCOR BCL6 corepressor
BCR breakpoint cluster region
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BDNF brain-derived neurotrophic factor
BEAN1 brain expressed, associated with NEDD4, 1
BEST1 bestrophin 1
BIN1 bridging integrator 1
BLM Bloom syndrome, RecQ helicase-like
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BOLA3 bolA family member 3
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 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
C12ORF65 chromosome 12 open reading frame 65
C19ORF12 chromosome 19 open reading frame 12
C2ORF71 chromosome 2 open reading frame 71
C4A complement component 4A (Rodgers blood group)
C5ORF42 chromosome 5 open reading frame 42
C8ORF37 chromosome 8 open reading frame 37
C9ORF72 chromosome 9 open reading frame 72
CA2 carbonic anhydrase II
CA4 carbonic anhydrase IV
CA5A carbonic anhydrase VA, mitochondrial
CA8 carbonic anhydrase VIII
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNB4 calcium channel, voltage-dependent, beta 4 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
CAV1 caveolin 1, caveolae protein, 22kDa
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
CCDC22 coiled-coil domain containing 22
CCDC78 coiled-coil domain containing 78
CD96 CD96 molecule
CDC6 cell division cycle 6
CDH23 cadherin-related 23
CDHR1 cadherin-related family member 1
CDKL5 cyclin-dependent kinase-like 5
CDT1 chromatin licensing and DNA replication factor 1
CECR1 cat eye syndrome chromosome region, candidate 1
CENPJ centromere protein J
CEP152 centrosomal protein 152kDa
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CEP57 centrosomal protein 57kDa
CERKL ceramide kinase-like
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10
CHD7 chromodomain helicase DNA binding protein 7
CHKB choline kinase beta
CHL1 cell adhesion molecule L1-like
CHMP1A charged multivesicular body protein 1A
CHMP2B charged multivesicular body protein 2B
CHN1 chimerin 1
CHRM3 cholinergic receptor, muscarinic 3
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)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CIB2 calcium and integrin binding family member 2
CISD2 CDGSH iron sulfur domain 2
CLCF1 cardiotrophin-like cytokine factor 1
CLCN7 chloride channel, voltage-sensitive 7
CLIP2 CAP-GLY domain containing linker protein 2
CLMP CXADR-like membrane protein
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
CLRN1 clarin 1
CNGA1 cyclic nucleotide gated channel alpha 1
CNGB1 cyclic nucleotide gated channel beta 1
CNTN2 contactin 2 (axonal)
CNTN4 contactin 4
CNTNAP2 contactin associated protein-like 2
COASY CoA synthase
COG6 component of oligomeric golgi complex 6
COL18A1 collagen, type XVIII, alpha 1
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL4A1 collagen, type IV, alpha 1
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
COMT catechol-O-methyltransferase
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COX1
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
COX2
COX3
COX7B cytochrome c oxidase subunit VIIb
CP ceruloplasmin (ferroxidase)
CPOX coproporphyrinogen oxidase
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
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRLF1 cytokine receptor-like factor 1
CRX cone-rod homeobox
CSF1R colony stimulating factor 1 receptor
CSPP1 centrosome and spindle pole associated protein 1
CST3 cystatin C
CSTB cystatin B (stefin B)
CTC1 CTS telomere maintenance complex component 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTNND2 catenin (cadherin-associated protein), delta 2
CTNS cystinosin, lysosomal cystine transporter
CTSA cathepsin A
CTSF cathepsin F
CTSH cathepsin H
CTSK cathepsin K
CUBN cubilin (intrinsic factor-cobalamin receptor)
CUL4B cullin 4B
CYFIP1 cytoplasmic FMR1 interacting protein 1
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DBT dihydrolipoamide branched chain transacylase E2
DCAF17 DDB1 and CUL4 associated factor 17
DCTN1 dynactin 1
DCX doublecortin
DDHD2 DDHD domain containing 2
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DHDDS dehydrodolichyl diphosphate synthase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DISC2 disrupted in schizophrenia 2 (non-protein coding)
DKC1 dyskeratosis congenita 1, dyskerin
DLAT dihydrolipoamide S-acetyltransferase
DLD dihydrolipoamide dehydrogenase
DLG3 discs, large homolog 3 (Drosophila)
DLL3 delta-like 3 (Drosophila)
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
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
DPYD dihydropyrimidine dehydrogenase
DPYS dihydropyrimidinase
DSE dermatan sulfate epimerase
DSG4 desmoglein 4
DUOX2 dual oxidase 2
DUOXA2 dual oxidase maturation factor 2
DUSP6 dual specificity phosphatase 6
DYM dymeclin
ECE1 endothelin converting enzyme 1
ECM1 extracellular matrix protein 1
EDA ectodysplasin A
EDN3 endothelin 3
EDNRB endothelin receptor type B
EEF2 eukaryotic translation elongation factor 2
EFNB1 ephrin-B1
EFTUD2 elongation factor Tu GTP binding domain containing 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
ELOVL5 ELOVL fatty acid elongase 5
EMG1 EMG1 N1-specific pseudouridine methyltransferase
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)
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC4 excision repair cross-complementation group 4
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ERF Ets2 repressor factor
ERLIN2 ER lipid raft associated 2
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXOSC3 exosome component 3
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EYA1 EYA transcriptional coactivator and phosphatase 1
EYS eyes shut homolog (Drosophila)
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FA2H fatty acid 2-hydroxylase
FAM126A family with sequence similarity 126, member A
FAM161A family with sequence similarity 161, member A
FAM20A family with sequence similarity 20, member A
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FBP1 fructose-1,6-bisphosphatase 1
FBXO7 F-box protein 7
FEZF1 FEZ family zinc finger 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF14 fibroblast growth factor 14
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
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNB filamin B, beta
FLRT3 fibronectin leucine rich transmembrane protein 3
FMR1 fragile X mental retardation 1
FNBP4 formin binding protein 4
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXE1 forkhead box E1
FOXG1 forkhead box G1
FOXI1 forkhead box I1
FOXP2 forkhead box P2
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FSCN2 fascin actin-bundling protein 2, retinal
FTL ferritin, light polypeptide
FTSJ1 FtsJ RNA methyltransferase homolog 1 (E. coli)
FUCA1 fucosidase, alpha-L- 1, tissue
FUS FUS RNA binding protein
FXN frataxin
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALC galactosylceramidase
GALT galactose-1-phosphate uridylyltransferase
GAN gigaxonin
GATA2 GATA binding protein 2
GATA4 GATA binding protein 4
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)
GDF3 growth differentiation factor 3
GDF5 growth differentiation factor 5
GDF6 growth differentiation factor 6
GDI1 GDP dissociation inhibitor 1
GDNF glial cell derived neurotrophic factor
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GJB1 gap junction protein, beta 1, 32kDa
GJB2 gap junction protein, beta 2, 26kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GJB6 gap junction protein, beta 6, 30kDa
GJC2 gap junction protein, gamma 2, 47kDa
GK glycerol kinase
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GLDC glycine dehydrogenase (decarboxylating)
GLI3 GLI family zinc finger 3
GLRA1 glycine receptor, alpha 1
GLRB glycine receptor, beta
GLUD1 glutamate dehydrogenase 1
GM2A GM2 ganglioside activator
GMPPB GDP-mannose pyrophosphorylase B
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GNS glucosamine (N-acetyl)-6-sulfatase
GORAB golgin, RAB6-interacting
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GPC6 glypican 6
GPHN gephyrin
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRIP1 glutamate receptor interacting protein 1
GRM1 glutamate receptor, metabotropic 1
GRN granulin
GSS glutathione synthetase
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCA1B guanylate cyclase activator 1B (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
GUSB glucuronidase, beta
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HADH hydroxyacyl-CoA dehydrogenase
HARS2 histidyl-tRNA synthetase 2, mitochondrial
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HCCS holocytochrome c synthase
HCFC1 host cell factor C1
HCRT hypocretin (orexin) neuropeptide precursor
HDAC4 histone deacetylase 4
HDAC6 histone deacetylase 6
HDAC8 histone deacetylase 8
HEPACAM hepatic and glial cell adhesion molecule
HES7 hes family bHLH transcription factor 7
HESX1 HESX homeobox 1
HEXA hexosaminidase A (alpha polypeptide)
HEXB hexosaminidase B (beta polypeptide)
HFE hemochromatosis
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HHAT hedgehog acyltransferase
HIRA histone cell cycle regulator
HLA-B major histocompatibility complex, class I, B
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HMBS hydroxymethylbilane synthase
HMGA2 high mobility group AT-hook 2
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase
HNF1B HNF1 homeobox B
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
HSPG2 heparan sulfate proteoglycan 2
HTRA1 HtrA serine peptidase 1
HTT huntingtin
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IDUA iduronidase, alpha-L-
IFIH1 interferon induced with helicase C domain 1
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IGBP1 immunoglobulin (CD79A) binding protein 1
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL12B interleukin 12B
IL12RB2 interleukin 12 receptor, beta 2
IL17RD interleukin 17 receptor D
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
IL23R interleukin 23 receptor
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INSR insulin receptor
INVS inversin
IQCB1 IQ motif containing B1
IQSEC2 IQ motif and Sec7 domain 2
IRF6 interferon regulatory factor 6
ISPD isoprenoid synthase domain containing
ITGA7 integrin, alpha 7
ITM2B integral membrane protein 2B
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
IVD isovaleryl-CoA dehydrogenase
IYD iodotyrosine deiodinase
JAK2 Janus kinase 2
JPH3 junctophilin 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
KCNC3 potassium channel, voltage gated Shaw related subfamily C, member 3
KCND3 potassium channel, voltage gated Shal related subfamily D, member 3
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
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
KIAA0196 KIAA0196
KIAA0226 KIAA0226
KIAA2022 KIAA2022
KIF11 kinesin family member 11
KIF1BP KIF1 binding protein
KIF1C kinesin family member 1C
KIF22 kinesin family member 22
KIF4A kinesin family member 4A
KIF7 kinesin family member 7
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KIZ kizuna centrosomal protein
KLHL7 kelch-like family member 7
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT16 keratin 16, type I
KRT17 keratin 17, type I
KRT18 keratin 18, type I
KRT6A keratin 6A, type II
KRT6B keratin 6B, type II
KRT8 keratin 8, type II
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
LAMA1 laminin, alpha 1
LAMP2 lysosomal-associated membrane protein 2
LARGE like-glycosyltransferase
LARS2 leucyl-tRNA synthetase 2, mitochondrial
LCA5 Leber congenital amaurosis 5
LEMD3 LEM domain containing 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LHX1 LIM homeobox 1
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LINS lines homolog (Drosophila)
LIPA lipase A, lysosomal acid, cholesterol esterase
LIPN lipase, family member N
LMBRD1 LMBR1 domain containing 1
LMNA lamin A/C
LMNB1 lamin B1
LMNB2 lamin B2
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRP2 low density lipoprotein receptor-related protein 2
LRP5 low density lipoprotein receptor-related protein 5
LRRK2 leucine-rich repeat kinase 2
LTBP2 latent transforming growth factor beta binding protein 2
LYRM7 LYR motif containing 7
LYST lysosomal trafficking regulator
LZTFL1 leucine zipper transcription factor-like 1
MAGT1 magnesium transporter 1
MAK male germ cell-associated kinase
MAN2B1 mannosidase, alpha, class 2B, member 1
MANBA mannosidase, beta A, lysosomal
MAOA monoamine oxidase A
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAPK1 mitogen-activated protein kinase 1
MAPT microtubule-associated protein tau
MARS2 methionyl-tRNA synthetase 2, mitochondrial
MATR3 matrin 3
MBD5 methyl-CpG binding domain protein 5
MBTPS2 membrane-bound transcription factor peptidase, site 2
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MCOLN1 mucolipin 1
MCPH1 microcephalin 1
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEF2C myocyte enhancer factor 2C
MEFV Mediterranean fever
MEIS2 Meis homeobox 2
MEOX1 mesenchyme homeobox 1
MERTK MER proto-oncogene, tyrosine kinase
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MFN2 mitofusin 2
MFSD8 major facilitator superfamily domain containing 8
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGME1 mitochondrial genome maintenance exonuclease 1
MGP matrix Gla protein
MID2 midline 2
MIPOL1 mirror-image polydactyly 1
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLH1 mutL homolog 1
MLX MLX, MAX dimerization protein
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
MOG myelin oligodendrocyte glycoprotein
MPDU1 mannose-P-dolichol utilization defect 1
MPL MPL proto-oncogene, thrombopoietin receptor
MPST mercaptopyruvate sulfurtransferase
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
MRPS16 mitochondrial ribosomal protein S16
MSH2 mutS homolog 2
MSH6 mutS homolog 6
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
MTO1 mitochondrial tRNA translation optimization 1
MTPAP mitochondrial poly(A) polymerase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MUSK muscle, skeletal, receptor tyrosine kinase
MUT methylmalonyl CoA mutase
MVK mevalonate kinase
MYD88 myeloid differentiation primary response 88
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYO5A myosin VA (heavy chain 12, myoxin)
MYO7A myosin VIIA
MYOT myotilin
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGA N-acetylgalactosaminidase, alpha-
NAGLU N-acetylglucosaminidase, alpha
NAGS N-acetylglutamate synthase
NBN nibrin
ND1
NDE1 nudE neurodevelopment protein 1
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
NEK2 NIMA-related kinase 2
NELFA negative elongation factor complex member A
NEU1 sialidase 1 (lysosomal sialidase)
NF1 neurofibromin 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NFU1 NFU1 iron-sulfur cluster scaffold
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NHP2 NHP2 ribonucleoprotein
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NIPAL4 NIPA-like domain containing 4
NIPBL Nipped-B homolog (Drosophila)
NKX2-1 NK2 homeobox 1
NKX2-5 NK2 homeobox 5
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOP10 NOP10 ribonucleoprotein
NOP56 NOP56 ribonucleoprotein
NOTCH1 notch 1
NOTCH2 notch 2
NOTCH3 notch 3
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRL neural retina leucine zipper
NRTN neurturin
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
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NUBPL nucleotide binding protein-like
OCA2 oculocutaneous albinism II
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
OPTN optineurin
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
OTC ornithine carbamoyltransferase
OTX2 orthodenticle homeobox 2
P2RY11 purinergic receptor P2Y, G-protein coupled, 11
PABPN1 poly(A) binding protein, nuclear 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAH phenylalanine hydroxylase
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PALB2 partner and localizer of BRCA2
PANK2 pantothenate kinase 2
PAX1 paired box 1
PAX3 paired box 3
PAX6 paired box 6
PAX8 paired box 8
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PCDH15 protocadherin-related 15
PCNA proliferating cell nuclear antigen
PCNT pericentrin
PDE11A phosphodiesterase 11A
PDE4D phosphodiesterase 4D, cAMP-specific
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDE8B phosphodiesterase 8B
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDYN prodynorphin
PEPD peptidase D
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
PGM3 phosphoglucomutase 3
PHF21A PHD finger protein 21A
PHF6 PHD finger protein 6
PHF8 PHD finger protein 8
PHOX2B paired-like homeobox 2b
PHYH phytanoyl-CoA 2-hydroxylase
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
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5
PINK1 PTEN induced putative kinase 1
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLEC plectin
PLP1 proteolipid protein 1
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNKD paroxysmal nonkinesigenic dyskinesia
PNPLA6 patatin-like phospholipase domain containing 6
POLG polymerase (DNA directed), gamma
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PORCN porcupine homolog (Drosophila)
POU1F1 POU class 1 homeobox 1
PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PPT1 palmitoyl-protein thioesterase 1
PQBP1 polyglutamine binding protein 1
PRCD progressive rod-cone degeneration
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)
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCG protein kinase C, gamma
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PRNP prion protein
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PROM1 prominin 1
PROP1 PROP paired-like homeobox 1
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PRPF4 pre-mRNA processing factor 4
PRPF6 pre-mRNA processing factor 6
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRRT2 proline-rich transmembrane protein 2
PSAP prosaposin
PSEN1 presenilin 1
PSEN2 presenilin 2
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTCH1 patched 1
PTCHD1 patched domain containing 1
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTS 6-pyruvoyltetrahydropterin synthase
PUS1 pseudouridylate synthase 1
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PYCR1 pyrroline-5-carboxylate reductase 1
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)
RAB40AL RAB40A, member RAS oncogene family-like
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
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
RB1 retinoblastoma 1
RBBP8 retinoblastoma binding protein 8
RBM28 RNA binding motif protein 28
RBP3 retinol binding protein 3, interstitial
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
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RGR retinal G protein coupled receptor
RHO rhodopsin
RIPK4 receptor-interacting serine-threonine kinase 4
RIT1 Ras-like without CAAX 1
RLBP1 retinaldehyde binding protein 1
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNASEH2A ribonuclease H2, subunit A
RNASEH2B ribonuclease H2, subunit B
RNASEH2C ribonuclease H2, subunit C
RNASET2 ribonuclease T2
RNF213 ring finger protein 213
RNF216 ring finger protein 216
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)
ROM1 retinal outer segment membrane protein 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP2 retinitis pigmentosa 2 (X-linked recessive)
RP9 retinitis pigmentosa 9 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RTEL1 regulator of telomere elongation helicase 1
RTTN rotatin
SACS sacsin molecular chaperone
SAG S-antigen; retina and pineal gland (arrestin)
SALL1 spalt-like transcription factor 1
SAMHD1 SAM domain and HD domain 1
SATB2 SATB homeobox 2
SBDS Shwachman-Bodian-Diamond syndrome
SC5D sterol-C5-desaturase
SCARB2 scavenger receptor class B, member 2
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SDCCAG8 serologically defined colon cancer antigen 8
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SEC23A Sec23 homolog A (S. cerevisiae)
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SEPT9 septin 9
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1
SETBP1 SET binding protein 1
SETX senataxin
SF3B4 splicing factor 3b, subunit 4, 49kDa
SH2B1 SH2B adaptor protein 1
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHH sonic hedgehog
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
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
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC19A3 solute carrier family 19 (thiamine transporter), member 3
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC30A10 solute carrier family 30, member 10
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC46A1 solute carrier family 46 (folate transporter), member 1
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
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC7A14 solute carrier family 7, member 14
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SLITRK1 SLIT and NTRK-like family, member 1
SLX4 SLX4 structure-specific endonuclease subunit
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
SMOC1 SPARC related modular calcium binding 1
SMS spermine synthase
SNAI2 snail family zinc finger 2
SNAP29 synaptosomal-associated protein, 29kDa
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SNCB synuclein, beta
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SNRPN small nuclear ribonucleoprotein polypeptide N
SNX10 sorting nexin 10
SNX3 sorting nexin 3
SOBP sine oculis binding protein homolog (Drosophila)
SOD1 superoxide dismutase 1, soluble
SOS1 son of sevenless homolog 1 (Drosophila)
SOST sclerostin
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
SPAST spastin
SPATA7 spermatogenesis associated 7
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG20 spastic paraplegia 20 (Troyer syndrome)
SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPINK5 serine peptidase inhibitor, Kazal type 5
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
SPRY4 sprouty homolog 4 (Drosophila)
SPTBN2 spectrin, beta, non-erythrocytic 2
SRCAP Snf2-related CREBBP activator protein
SRPX2 sushi-repeat containing protein, X-linked 2
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STAT4 signal transducer and activator of transcription 4
STIM1 stromal interaction molecule 1
STRA6 stimulated by retinoic acid 6
STS steroid sulfatase (microsomal), isozyme S
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
SUMF1 sulfatase modifying factor 1
SURF1 surfeit 1
SYN1 synapsin I
SYNGAP1 synaptic Ras GTPase activating protein 1
SYNJ1 synaptojanin 1
SYP synaptophysin
SYT14 synaptotagmin XIV
TACR3 tachykinin receptor 3
TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
TARDBP TAR DNA binding protein
TAT tyrosine aminotransferase
TBC1D20 TBC1 domain family, member 20
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TBP TATA box binding protein
TBX1 T-box 1
TBX2 T-box 2
TBX4 T-box 4
TBXAS1 thromboxane A synthase 1 (platelet)
TCF12 transcription factor 12
TCF4 transcription factor 4
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCN2 transcobalamin II
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TECPR2 tectonin beta-propeller repeat containing 2
TERC telomerase RNA component
TERT telomerase reverse transcriptase
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
TGFB1 transforming growth factor, beta 1
TGM1 transglutaminase 1
TGM6 transglutaminase 6
THAP1 THAP domain containing, apoptosis associated protein 1
THPO thrombopoietin
THRA thyroid hormone receptor, alpha
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TLR4 toll-like receptor 4
TMCO1 transmembrane and coiled-coil domains 1
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM5 transmembrane protein 5
TMEM67 transmembrane protein 67
TMEM70 transmembrane protein 70
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TOR1A torsin family 1, member A (torsin A)
TP53 tumor protein p53
TP63 tumor protein p63
TPK1 thiamin pyrophosphokinase 1
TPO thyroid peroxidase
TPP1 tripeptidyl peptidase I
TREM2 triggering receptor expressed on myeloid cells 2
TREX1 three prime repair exonuclease 1
TRIM32 tripartite motif containing 32
TRIM37 tripartite motif containing 37
TRPS1 trichorhinophalangeal syndrome I
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSFM Ts translation elongation factor, mitochondrial
TSHR thyroid stimulating hormone receptor
TSPAN7 tetraspanin 7
TTBK2 tau tubulin kinase 2
TTC19 tetratricopeptide repeat domain 19
TTC37 tetratricopeptide repeat domain 37
TTC8 tetratricopeptide repeat domain 8
TTPA tocopherol (alpha) transfer protein
TTR transthyretin
TUB tubby bipartite transcription factor
TUBB4A tubulin, beta 4A class IVa
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
UBE2A ubiquitin-conjugating enzyme E2A
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
UBQLN2 ubiquilin 2
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UMPS uridine monophosphate synthetase
UPB1 ureidopropionase, beta
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2
UROD uroporphyrinogen decarboxylase
USB1 U6 snRNA biogenesis 1
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
USP9X ubiquitin specific peptidase 9, X-linked
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)
VCP valosin containing protein
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VLDLR very low density lipoprotein receptor
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WAS Wiskott-Aldrich syndrome
WDPCP WD repeat containing planar cell polarity effector
WDR11 WD repeat domain 11
WDR45 WD repeat domain 45
WDR81 WD repeat domain 81
WFS1 Wolfram syndrome 1 (wolframin)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WIPF1 WAS/WASL interacting protein family, member 1
WNT5A wingless-type MMTV integration site family, member 5A
WRAP53 WD repeat containing, antisense to TP53
WT1 Wilms tumor 1
WWOX WW domain containing oxidoreductase
XPA xeroderma pigmentosum, complementation group A
XYLT1 xylosyltransferase I
YAP1 Yes-associated protein 1
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
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
ZFP90 ZFP90 zinc finger protein
ZFYVE26 zinc finger, FYVE domain containing 26
ZNF365 zinc finger protein 365
ZNF41 zinc finger protein 41
ZNF423 zinc finger protein 423
ZNF513 zinc finger protein 513
ZNF592 zinc finger protein 592
ZNF674 zinc finger protein 674
ZNF711 zinc finger protein 711
ZNF81 zinc finger protein 81