abnormal involuntary eye movements Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Anomalous movements of the eyes that occur without the subject wanting them to happen. (Human Phenotype Ontology, HP_0012547)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0012547
Similar Terms
Downloads & Tools

Genes

557 genes associated with the abnormal involuntary eye movements 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
ABHD12 abhydrolase domain containing 12
ABHD5 abhydrolase domain containing 5
ACO2 aconitase 2, mitochondrial
ACOX1 acyl-CoA oxidase 1, palmitoyl
ADAR adenosine deaminase, RNA-specific
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
AHI1 Abelson helper integration site 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase
ALMS1 Alstrom syndrome protein 1
ALX4 ALX homeobox 4
ANK1 ankyrin 1, erythrocytic
ANKRD11 ankyrin repeat domain 11
ANO10 anoctamin 10
ANOS1 anosmin 1
ANTXR1 anthrax toxin receptor 1
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
APTX aprataxin
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
ARX aristaless related homeobox
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASPA aspartoacylase
ATCAY ataxia, cerebellar, Cayman type
ATM ATM serine/threonine kinase
ATN1 atrophin 1
ATOH7 atonal homolog 7 (Drosophila)
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATP5A1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
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)
B3GALTL beta 1,3-galactosyltransferase-like
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
B9D1 B9 protein domain 1
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
BCOR BCL6 corepressor
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BDNF brain-derived neurotrophic factor
BEAN1 brain expressed, associated with NEDD4, 1
BEST1 bestrophin 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
CA4 carbonic anhydrase IV
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
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CAV1 caveolin 1, caveolae protein, 22kDa
CC2D2A coiled-coil and C2 domain containing 2A
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDHR1 cadherin-related family member 1
CDKL5 cyclin-dependent kinase-like 5
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CERKL ceramide kinase-like
CHD7 chromodomain helicase DNA binding protein 7
CHMP1A charged multivesicular body protein 1A
CHN1 chimerin 1
CISD2 CDGSH iron sulfur domain 2
CLCN7 chloride channel, voltage-sensitive 7
CLDN16 claudin 16
CLDN19 claudin 19
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
COL11A1 collagen, type XI, alpha 1
COL18A1 collagen, type XVIII, alpha 1
COL2A1 collagen, type II, alpha 1
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
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
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
DARS aspartyl-tRNA synthetase
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DCX doublecortin
DFNB31 deafness, autosomal recessive 31
DGUOK deoxyguanosine kinase
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DHDDS dehydrodolichyl diphosphate synthase
DLAT dihydrolipoamide S-acetyltransferase
DNM1L dynamin 1-like
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPP6 dipeptidyl-peptidase 6
DPYD dihydropyrimidine dehydrogenase
DUSP6 dual specificity phosphatase 6
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
ELOVL4 ELOVL fatty acid elongase 4
ELOVL5 ELOVL fatty acid elongase 5
ELP4 elongator acetyltransferase complex subunit 4
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
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
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EXOSC3 exosome component 3
EYS eyes shut homolog (Drosophila)
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
FBXL4 F-box and leucine-rich repeat protein 4
FEZF1 FEZ family zinc finger 1
FGF14 fibroblast growth factor 14
FGF17 fibroblast growth factor 17
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FIG4 FIG4 phosphoinositide 5-phosphatase
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
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
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GFM1 G elongation factor, mitochondrial 1
GJA1 gap junction protein, alpha 1, 43kDa
GJA8 gap junction protein, alpha 8, 50kDa
GJB1 gap junction protein, beta 1, 32kDa
GJC2 gap junction protein, gamma 2, 47kDa
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
GPR143 G protein-coupled receptor 143
GPR179 G protein-coupled receptor 179
GRM1 glutamate receptor, metabotropic 1
GUCA1B guanylate cyclase activator 1B (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HARS histidyl-tRNA synthetase
HARS2 histidyl-tRNA synthetase 2, mitochondrial
HDAC8 histone deacetylase 8
HDAC9 histone deacetylase 9
HESX1 HESX homeobox 1
HMGB3 high mobility group box 3
HMX1 H6 family homeobox 1
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
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)
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT27 intraflagellar transport 27
IFT43 intraflagellar transport 43
IGBP1 immunoglobulin (CD79A) binding protein 1
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
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
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2
KDM6A lysine (K)-specific demethylase 6A
KIAA0226 KIAA0226
KIF1C kinesin family member 1C
KIF2A kinesin heavy chain member 2A
KIF7 kinesin family member 7
KISS1R KISS1 receptor
KIZ kizuna centrosomal protein
KLHL7 kelch-like family member 7
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
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
LCA5 Leber congenital amaurosis 5
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIG4 ligase IV, DNA, ATP-dependent
LMNB1 lamin B1
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
LYST lysosomal trafficking regulator
LZTFL1 leucine zipper transcription factor-like 1
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MAK male germ cell-associated kinase
MAN2B1 mannosidase, alpha, class 2B, member 1
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MARS2 methionyl-tRNA synthetase 2, mitochondrial
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
MERTK MER proto-oncogene, tyrosine kinase
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
MPC1 mitochondrial pyruvate carrier 1
MPLKIP M-phase specific PLK1 interacting protein
MPV17 MpV17 mitochondrial inner membrane protein
MPZ myelin protein zero
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
MTFMT mitochondrial methionyl-tRNA formyltransferase
MTPAP mitochondrial poly(A) polymerase
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MVK mevalonate kinase
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
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)
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
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
NSD1 nuclear receptor binding SET domain protein 1
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
OTX2 orthodenticle homeobox 2
PALB2 partner and localizer of BRCA2
PAX2 paired box 2
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
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1
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
PHYH phytanoyl-CoA 2-hydroxylase
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)
PLP1 proteolipid protein 1
PMM2 phosphomannomutase 2
PMP22 peripheral myelin protein 22
PNPLA6 patatin-like phospholipase domain containing 6
POLG polymerase (DNA directed), gamma
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-)
PORCN porcupine homolog (Drosophila)
PRCD progressive rod-cone degeneration
PRDM16 PR domain containing 16
PRICKLE2 prickle homolog 2 (Drosophila)
PRKCG protein kinase C, gamma
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
PTCH1 patched 1
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
RBP3 retinol binding protein 3, interstitial
RD3 retinal degeneration 3
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RECQL4 RecQ protein-like 4
RGR retinal G protein coupled receptor
RHO rhodopsin
RIT1 Ras-like without CAAX 1
RLBP1 retinaldehyde binding protein 1
RNASET2 ribonuclease T2
RNF216 ring finger protein 216
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
ROM1 retinal outer segment membrane protein 1
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
SACS sacsin molecular chaperone
SAG S-antigen; retina and pineal gland (arrestin)
SALL4 spalt-like transcription factor 4
SCN1A sodium channel, voltage gated, type I 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)
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
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1
SETX senataxin
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SIL1 SIL1 nucleotide exchange factor
SIM1 single-minded family bHLH transcription factor 1
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
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
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
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
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
SNIP1 Smad nuclear interacting protein 1
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SNX10 sorting nexin 10
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)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPRY4 sprouty homolog 4 (Drosophila)
SPTBN2 spectrin, beta, non-erythrocytic 2
SRD5A3 steroid 5 alpha-reductase 3
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
SURF1 surfeit 1
SYT14 synaptotagmin XIV
TACR3 tachykinin receptor 3
TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
TAT tyrosine aminotransferase
TBP TATA box binding protein
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB2 transforming growth factor, beta 2
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMEM126A transmembrane protein 126A
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TPP1 tripeptidyl peptidase I
TREX1 three prime repair exonuclease 1
TRIM32 tripartite motif containing 32
TRPM1 transient receptor potential cation channel, subfamily M, member 1
TTBK2 tau tubulin kinase 2
TTC19 tetratricopeptide repeat domain 19
TTC8 tetratricopeptide repeat domain 8
TTPA tocopherol (alpha) transfer protein
TTR transthyretin
TUB tubby bipartite transcription factor
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
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UROC1 urocanate hydratase 1
USH2A Usher syndrome 2A (autosomal recessive, mild)
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
WFS1 Wolfram syndrome 1 (wolframin)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WT1 Wilms tumor 1
WWOX WW domain containing oxidoreductase
YAP1 Yes-associated protein 1
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
ZFP90 ZFP90 zinc finger protein
ZFYVE26 zinc finger, FYVE domain containing 26
ZNF423 zinc finger protein 423
ZNF513 zinc finger protein 513