abnormality of eye movement Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality in voluntary or involuntary eye movements or their control. (Human Phenotype Ontology, HP_0000496)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000496
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Genes

845 genes associated with the abnormality of eye movement phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
AARS2 alanyl-tRNA synthetase 2, mitochondrial
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABHD12 abhydrolase domain containing 12
ABHD5 abhydrolase domain containing 5
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
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTA1 actin, alpha 1, skeletal muscle
ADAR adenosine deaminase, RNA-specific
ADAT3 adenosine deaminase, tRNA-specific 3
ADGRG1 adhesion G protein-coupled receptor G1
ADGRV1 adhesion G protein-coupled receptor V1
ADSL adenylosuccinate lyase
AFG3L2 AFG3-like AAA ATPase 2
AGK acylglycerol kinase
AHDC1 AT hook, DNA binding motif, containing 1
AHI1 Abelson helper integration site 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
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
ALMS1 Alstrom syndrome protein 1
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ALX4 ALX homeobox 4
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
ANK1 ankyrin 1, erythrocytic
ANKRD11 ankyrin repeat domain 11
ANO10 anoctamin 10
ANOS1 anosmin 1
ANTXR1 anthrax toxin receptor 1
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4M1 adaptor-related protein complex 4, mu 1 subunit
APTX aprataxin
ARHGAP31 Rho GTPase activating protein 31
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
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
ASPA aspartoacylase
ASXL1 additional sex combs like transcriptional regulator 1
ATCAY ataxia, cerebellar, Cayman type
ATM ATM serine/threonine kinase
ATN1 atrophin 1
ATOH7 atonal homolog 7 (Drosophila)
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
ATP5A1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATR ATR serine/threonine kinase
ATRX alpha thalassemia/mental retardation syndrome X-linked
ATXN1 ataxin 1
ATXN10 ataxin 10
ATXN2 ataxin 2
ATXN3 ataxin 3
ATXN7 ataxin 7
ATXN8 ataxin 8
ATXN8OS ATXN8 opposite strand (non-protein coding)
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
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
BCAP31 B-cell receptor-associated protein 31
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
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
BMP4 bone morphogenetic protein 4
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C10ORF11 chromosome 10 open reading frame 11
C10ORF2 chromosome 10 open reading frame 2
C12ORF65 chromosome 12 open reading frame 65
C2ORF71 chromosome 2 open reading frame 71
C5ORF42 chromosome 5 open reading frame 42
C8ORF37 chromosome 8 open reading frame 37
C9ORF72 chromosome 9 open reading frame 72
CA4 carbonic anhydrase IV
CA8 carbonic anhydrase VIII
CABP4 calcium binding protein 4
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CAMTA1 calmodulin binding transcription activator 1
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CAV1 caveolin 1, caveolae protein, 22kDa
CC2D2A coiled-coil and C2 domain containing 2A
CD96 CD96 molecule
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDHR1 cadherin-related family member 1
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
CEP83 centrosomal protein 83kDa
CERKL ceramide kinase-like
CHAT choline O-acetyltransferase
CHD7 chromodomain helicase DNA binding protein 7
CHMP1A charged multivesicular body protein 1A
CHN1 chimerin 1
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
CISD2 CDGSH iron sulfur domain 2
CLCN7 chloride channel, voltage-sensitive 7
CLDN16 claudin 16
CLDN19 claudin 19
CLIP2 CAP-GLY domain containing linker protein 2
CLP1 cleavage and polyadenylation factor I subunit 1
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
CLRN1 clarin 1
CNGA1 cyclic nucleotide gated channel alpha 1
CNGA3 cyclic nucleotide gated channel alpha 3
CNGB1 cyclic nucleotide gated channel beta 1
CNGB3 cyclic nucleotide gated channel beta 3
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4
COG4 component of oligomeric golgi complex 4
COG8 component of oligomeric golgi complex 8
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL18A1 collagen, type XVIII, alpha 1
COL2A1 collagen, type II, alpha 1
COL4A1 collagen, type IV, alpha 1
COLEC11 collectin sub-family member 11
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
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRX cone-rod homeobox
CRYAA crystallin, alpha A
CRYBA4 crystallin, beta A4
CRYBB1 crystallin, beta B1
CRYBB2 crystallin, beta B2
CRYGC crystallin, gamma C
CRYGD crystallin, gamma D
CSPP1 centrosome and spindle pole associated protein 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTSH cathepsin H
CYB5R3 cytochrome b5 reductase 3
CYFIP1 cytoplasmic FMR1 interacting protein 1
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
DARS aspartyl-tRNA synthetase
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DCN decorin
DCTN1 dynactin 1
DCX doublecortin
DDHD2 DDHD domain containing 2
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
DFNB31 deafness, autosomal recessive 31
DGUOK deoxyguanosine kinase
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DHDDS dehydrodolichyl diphosphate synthase
DHODH dihydroorotate dehydrogenase (quinone)
DKC1 dyskeratosis congenita 1, dyskerin
DLAT dihydrolipoamide S-acetyltransferase
DLG3 discs, large homolog 3 (Drosophila)
DMPK dystrophia myotonica-protein kinase
DNA2 DNA replication helicase/nuclease 2
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6
DNM1L dynamin 1-like
DNM2 dynamin 2
DOCK6 dedicator of cytokinesis 6
DOK7 docking protein 7
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
DPP6 dipeptidyl-peptidase 6
DPYD dihydropyrimidine dehydrogenase
DUSP6 dual specificity phosphatase 6
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
EBP emopamil binding protein (sterol isomerase)
EDNRB endothelin receptor type B
EEF2 eukaryotic translation elongation factor 2
EFNB1 ephrin-B1
EGR2 early growth response 2
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
ELOVL5 ELOVL fatty acid elongase 5
ELP4 elongator acetyltransferase complex subunit 4
EMX2 empty spiracles homeobox 2
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ERCC1 excision repair cross-complementation group 1
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ERF Ets2 repressor factor
ERLIN2 ER lipid raft associated 2
ERMARD ER membrane-associated RNA degradation
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXOSC3 exosome component 3
EYS eyes shut homolog (Drosophila)
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FA2H fatty acid 2-hydroxylase
FAM161A family with sequence similarity 161, 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
FBN1 fibrillin 1
FBXL4 F-box and leucine-rich repeat protein 4
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
FGF3 fibroblast growth factor 3
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
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
FOXC1 forkhead box C1
FOXL2 forkhead box L2
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FRMD7 FERM domain containing 7
FSCN2 fascin actin-bundling protein 2, retinal
FTL ferritin, light polypeptide
FXN frataxin
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALC galactosylceramidase
GAN gigaxonin
GATA3 GATA binding protein 3
GBA glucosidase, beta, acid
GBA2 glucosidase, beta (bile acid) 2
GCDH glutaryl-CoA dehydrogenase
GCH1 GTP cyclohydrolase 1
GDF3 growth differentiation factor 3
GDF5 growth differentiation factor 5
GDF6 growth differentiation factor 6
GFM1 G elongation factor, mitochondrial 1
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GJA1 gap junction protein, alpha 1, 43kDa
GJA8 gap junction protein, alpha 8, 50kDa
GJB1 gap junction protein, beta 1, 32kDa
GJB6 gap junction protein, beta 6, 30kDa
GJC2 gap junction protein, gamma 2, 47kDa
GK glycerol kinase
GLRB glycine receptor, beta
GMPPA GDP-mannose pyrophosphorylase A
GMPPB GDP-mannose pyrophosphorylase B
GNAS GNAS complex locus
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPR143 G protein-coupled receptor 143
GPR179 G protein-coupled receptor 179
GRM1 glutamate receptor, metabotropic 1
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCA1B guanylate cyclase activator 1B (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HARS histidyl-tRNA synthetase
HARS2 histidyl-tRNA synthetase 2, mitochondrial
HCRT hypocretin (orexin) neuropeptide precursor
HDAC8 histone deacetylase 8
HDAC9 histone deacetylase 9
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HESX1 HESX homeobox 1
HHAT hedgehog acyltransferase
HIRA histone cell cycle regulator
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMGB3 high mobility group box 3
HMX1 H6 family homeobox 1
HOXA1 homeobox A1
HOXA13 homeobox A13
HOXB1 homeobox B1
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HRAS Harvey rat sarcoma viral oncogene homolog
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HSPG2 heparan sulfate proteoglycan 2
HTT huntingtin
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IFIH1 interferon induced with helicase C domain 1
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IFT43 intraflagellar transport 43
IGBP1 immunoglobulin (CD79A) binding protein 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL17RD interleukin 17 receptor D
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
IQCB1 IQ motif containing B1
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
JAG1 jagged 1
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
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
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2
KDM5C lysine (K)-specific demethylase 5C
KDM6A lysine (K)-specific demethylase 6A
KIAA0226 KIAA0226
KIAA2022 KIAA2022
KIF1C kinesin family member 1C
KIF21A kinesin family member 21A
KIF2A kinesin heavy chain member 2A
KIF7 kinesin family member 7
KISS1R KISS1 receptor
KIZ kizuna centrosomal protein
KLHL7 kelch-like family member 7
KMT2A lysine (K)-specific methyltransferase 2A
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT14 keratin 14, type I
KRT5 keratin 5, type II
KRT71 keratin 71, type II
KRT74 keratin 74, type II
L1CAM L1 cell adhesion molecule
L2HGDH L-2-hydroxyglutarate dehydrogenase
LAMA1 laminin, alpha 1
LAMB2 laminin, beta 2 (laminin S)
LARGE like-glycosyltransferase
LARS2 leucyl-tRNA synthetase 2, mitochondrial
LBR lamin B receptor
LCA5 Leber congenital amaurosis 5
LEMD3 LEM domain containing 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LIPH lipase, member H
LMNB1 lamin B1
LPAR6 lysophosphatidic acid receptor 6
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRIT3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
LRPPRC leucine-rich pentatricopeptide repeat containing
LYST lysosomal trafficking regulator
LZTFL1 leucine zipper transcription factor-like 1
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MAGEL2 melanoma antigen family L2
MAK male germ cell-associated kinase
MAMLD1 mastermind-like domain containing 1
MAN2B1 mannosidase, alpha, class 2B, member 1
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
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MBD5 methyl-CpG binding domain protein 5
MBTPS2 membrane-bound transcription factor peptidase, site 2
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MCOLN1 mucolipin 1
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEF2C myocyte enhancer factor 2C
MERTK MER proto-oncogene, tyrosine kinase
MFN2 mitofusin 2
MFRP membrane frizzled-related protein
MGME1 mitochondrial genome maintenance exonuclease 1
MID2 midline 2
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MOG myelin oligodendrocyte glycoprotein
MPC1 mitochondrial pyruvate carrier 1
MPLKIP M-phase specific PLK1 interacting protein
MPST mercaptopyruvate sulfurtransferase
MPV17 MpV17 mitochondrial inner membrane protein
MPZ myelin protein zero
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
MT-ATP8 ATP synthase F0 subunit 8
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TK tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTFMT mitochondrial methionyl-tRNA formyltransferase
MTM1 myotubularin 1
MTPAP mitochondrial poly(A) polymerase
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MUSK muscle, skeletal, receptor tyrosine kinase
MVK mevalonate kinase
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYO5A myosin VA (heavy chain 12, myoxin)
MYO7A myosin VIIA
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGA N-acetylgalactosaminidase, alpha-
NALCN sodium leak channel, non selective
NBAS neuroblastoma amplified sequence
ND1
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
NEK2 NIMA-related kinase 2
NELFA negative elongation factor complex member A
NEU1 sialidase 1 (lysosomal sialidase)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NIPBL Nipped-B homolog (Drosophila)
NME1 NME/NM23 nucleoside diphosphate kinase 1
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOG noggin
NOP56 NOP56 ribonucleoprotein
NOTCH1 notch 1
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NPHP1 nephronophthisis 1 (juvenile)
NPHP4 nephronophthisis 4
NR2E3 nuclear receptor subfamily 2, group E, member 3
NR2F1 nuclear receptor subfamily 2, group F, member 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRL neural retina leucine zipper
NRXN1 neurexin 1
NSD1 nuclear receptor binding SET domain protein 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NT5C2 5'-nucleotidase, cytosolic II
NUBPL nucleotide binding protein-like
NUP62 nucleoporin 62kDa
OCA2 oculocutaneous albinism II
OCLN occludin
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OPA1 optic atrophy 1 (autosomal dominant)
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OPHN1 oligophrenin 1
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
ORC1 origin recognition complex, subunit 1
OTX2 orthodenticle homeobox 2
P2RY11 purinergic receptor P2Y, G-protein coupled, 11
PABPN1 poly(A) binding protein, nuclear 1
PALB2 partner and localizer of BRCA2
PAX2 paired box 2
PAX3 paired box 3
PAX6 paired box 6
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma
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
PDYN prodynorphin
PDZD7 PDZ domain containing 7
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
PHF6 PHD finger protein 6
PHGDH phosphoglycerate dehydrogenase
PHOX2A paired-like homeobox 2a
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
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5
PITX2 paired-like homeodomain 2
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLEC plectin
PLP1 proteolipid protein 1
PMM2 phosphomannomutase 2
PMP22 peripheral myelin protein 22
PNPLA6 patatin-like phospholipase domain containing 6
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
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-)
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PORCN porcupine homolog (Drosophila)
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PQBP1 polyglutamine binding protein 1
PRCD progressive rod-cone degeneration
PRDM16 PR domain containing 16
PRICKLE2 prickle homolog 2 (Drosophila)
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCG protein kinase C, gamma
PRNP prion protein
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PROM1 prominin 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
PRSS12 protease, serine, 12 (neurotrypsin, motopsin)
PRX periaxin
PSAP prosaposin
PTCH1 patched 1
PTCH2 patched 2
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAB18 RAB18, member RAS oncogene family
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAI1 retinoic acid induced 1
RAPSN receptor-associated protein of the synapse
RBM8A RNA binding motif protein 8A
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)
RECQL4 RecQ protein-like 4
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RGR retinal G protein coupled receptor
RHO rhodopsin
RIT1 Ras-like without CAAX 1
RLBP1 retinaldehyde binding protein 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNASET2 ribonuclease T2
RNF216 ring finger protein 216
ROBO3 roundabout, axon guidance receptor, homolog 3 (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
RPS19 ribosomal protein S19
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RS1 retinoschisin 1
RYR1 ryanodine receptor 1 (skeletal)
SACS sacsin molecular chaperone
SAG S-antigen; retina and pineal gland (arrestin)
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SATB2 SATB homeobox 2
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCO2 SCO2 cytochrome c oxidase assembly protein
SCP2 sterol carrier protein 2
SDCCAG8 serologically defined colon cancer antigen 8
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
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
SEPN1 selenoprotein N, 1
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1
SETBP1 SET binding protein 1
SETX senataxin
SH2B1 SH2B adaptor protein 1
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHH sonic hedgehog
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
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
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
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
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), 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
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC38A8 solute carrier family 38, member 8
SLC45A2 solute carrier family 45, member 2
SLC4A11 solute carrier family 4, sodium borate transporter, member 11
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
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
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
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
SNAP29 synaptosomal-associated protein, 29kDa
SNIP1 Smad nuclear interacting protein 1
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SNRPN small nuclear ribonucleoprotein polypeptide N
SNX10 sorting nexin 10
SOBP sine oculis binding protein homolog (Drosophila)
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
SPEG SPEG complex locus
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
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
SRD5A3 steroid 5 alpha-reductase 3
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
SUFU suppressor of fused homolog (Drosophila)
SURF1 surfeit 1
SYNJ1 synaptojanin 1
SYT14 synaptotagmin XIV
TACR3 tachykinin receptor 3
TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
TAT tyrosine aminotransferase
TBL2 transducin (beta)-like 2
TBP TATA box binding protein
TBX1 T-box 1
TBX2 T-box 2
TBX4 T-box 4
TCF12 transcription factor 12
TCF4 transcription factor 4
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGFB2 transforming growth factor, beta 2
TGFBI transforming growth factor, beta-induced, 68kDa
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMCO1 transmembrane and coiled-coil domains 1
TMEM126A transmembrane protein 126A
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TMEM98 transmembrane protein 98
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
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
TPM3 tropomyosin 3
TPP1 tripeptidyl peptidase I
TRAPPC11 trafficking protein particle complex 11
TREM2 triggering receptor expressed on myeloid cells 2
TREX1 three prime repair exonuclease 1
TRIM32 tripartite motif containing 32
TRIM37 tripartite motif containing 37
TRNE
TRPM1 transient receptor potential cation channel, subfamily M, member 1
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TSPYL1 TSPY-like 1
TTBK2 tau tubulin kinase 2
TTC19 tetratricopeptide repeat domain 19
TTC8 tetratricopeptide repeat domain 8
TTI2 TELO2 interacting protein 2
TTPA tocopherol (alpha) transfer protein
TTR transthyretin
TUB tubby bipartite transcription factor
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
TUFM Tu translation elongation factor, mitochondrial
TULP1 tubby like protein 1
TWIST1 twist family bHLH transcription factor 1
TWIST2 twist family bHLH transcription factor 2
TYMP thymidine phosphorylase
TYR tyrosinase
TYROBP TYRO protein tyrosine kinase binding protein
TYRP1 tyrosinase-related protein 1
UBA1 ubiquitin-like modifier activating enzyme 1
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UFD1L ubiquitin fusion degradation 1 like (yeast)
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UROC1 urocanate hydratase 1
USH2A Usher syndrome 2A (autosomal recessive, mild)
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)
VARS2 valyl-tRNA synthetase 2, mitochondrial
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VLDLR very low density lipoprotein receptor
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WDPCP WD repeat containing planar cell polarity effector
WDR11 WD repeat domain 11
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WDR45 WD repeat domain 45
WDR81 WD repeat domain 81
WFS1 Wolfram syndrome 1 (wolframin)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT5A wingless-type MMTV integration site family, member 5A
WT1 Wilms tumor 1
WWOX WW domain containing oxidoreductase
YAP1 Yes-associated protein 1
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
ZBTB16 zinc finger and BTB domain containing 16
ZC4H2 zinc finger, C4H2 domain containing
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
ZNF423 zinc finger protein 423
ZNF513 zinc finger protein 513
ZNF592 zinc finger protein 592