abnormality of the fundus Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001098
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Genes

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

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ABHD12 abhydrolase domain containing 12
ACO2 aconitase 2, mitochondrial
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTB actin, beta
ACTG1 actin gamma 1
ACVRL1 activin A receptor type II-like 1
ADAM9 ADAM metallopeptidase domain 9
ADAMTSL4 ADAMTS-like 4
ADGRV1 adhesion G protein-coupled receptor V1
AGK acylglycerol kinase
AGXT alanine-glyoxylate aminotransferase
AHI1 Abelson helper integration site 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH1A3 aldehyde dehydrogenase 1 family, member A3
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALMS1 Alstrom syndrome protein 1
AMACR alpha-methylacyl-CoA racemase
AMPD2 adenosine monophosphate deaminase 2
ANK1 ankyrin 1, erythrocytic
ANKRD11 ankyrin repeat domain 11
ANTXR1 anthrax toxin receptor 1
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APC adenomatous polyposis coli
APOB apolipoprotein B
APOC2 apolipoprotein C-II
APOE apolipoprotein E
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
ASPA aspartoacylase
ASXL1 additional sex combs like transcriptional regulator 1
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATOH7 atonal homolog 7 (Drosophila)
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATRX alpha thalassemia/mental retardation syndrome X-linked
ATXN1 ataxin 1
ATXN2 ataxin 2
ATXN7 ataxin 7
AUH AU RNA binding protein/enoyl-CoA hydratase
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALTL beta 1,3-galactosyltransferase-like
B3GNT1
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
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
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BEST1 bestrophin 1
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
BMP4 bone morphogenetic protein 4
BRAF B-Raf proto-oncogene, serine/threonine kinase
BTD biotinidase
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
C1QTNF5 C1q and tumor necrosis factor related protein 5
C2ORF71 chromosome 2 open reading frame 71
C4A complement component 4A (Rodgers blood group)
C8ORF37 chromosome 8 open reading frame 37
CA2 carbonic anhydrase II
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
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4
CAPN5 calpain 5
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CC2D2A coiled-coil and C2 domain containing 2A
CCDC22 coiled-coil domain containing 22
CDH23 cadherin-related 23
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDHR1 cadherin-related family member 1
CDK4 cyclin-dependent kinase 4
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
CECR1 cat eye syndrome chromosome region, candidate 1
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CERKL ceramide kinase-like
CHD7 chromodomain helicase DNA binding protein 7
CHEK2 checkpoint kinase 2
CHM choroideremia (Rab escort protein 1)
CHN1 chimerin 1
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHSY1 chondroitin sulfate synthase 1
CIB2 calcium and integrin binding family member 2
CISD2 CDGSH iron sulfur domain 2
CLCN2 chloride channel, voltage-sensitive 2
CLCN7 chloride channel, voltage-sensitive 7
CLCNKB chloride channel, voltage-sensitive Kb
CLDN19 claudin 19
CLIP2 CAP-GLY domain containing linker protein 2
CLN3 ceroid-lipofuscinosis, neuronal 3
CLN5 ceroid-lipofuscinosis, neuronal 5
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
CLRN1 clarin 1
CNGA1 cyclic nucleotide gated channel alpha 1
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
COA5 cytochrome c oxidase assembly factor 5
COL11A1 collagen, type XI, alpha 1
COL18A1 collagen, type XVIII, alpha 1
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COL4A1 collagen, type IV, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COMT catechol-O-methyltransferase
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COX1
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX14 COX14 cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
COX2
COX20 COX20 cytochrome c oxidase assembly factor
COX3
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
COX7B cytochrome c oxidase subunit VIIb
CP ceruloplasmin (ferroxidase)
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CREBBP CREB binding protein
CRX cone-rod homeobox
CRYAB crystallin, alpha B
CRYBA4 crystallin, beta A4
CSPP1 centrosome and spindle pole associated protein 1
CST3 cystatin C
CTC1 CTS telomere maintenance complex component 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNS cystinosin, lysosomal cystine transporter
CTSA cathepsin A
CTSD cathepsin D
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DDHD2 DDHD domain containing 2
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DFNB31 deafness, autosomal recessive 31
DHCR7 7-dehydrocholesterol reductase
DHDDS dehydrodolichyl diphosphate synthase
DKC1 dyskeratosis congenita 1, dyskerin
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DNM1L dynamin 1-like
DNM2 dynamin 2
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DOCK6 dedicator of cytokinesis 6
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DPYD dihydropyrimidine dehydrogenase
DTNBP1 dystrobrevin binding protein 1
DUX4 double homeobox 4
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EBP emopamil binding protein (sterol isomerase)
EDN3 endothelin 3
EDNRB endothelin receptor type B
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
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
ELP4 elongator acetyltransferase complex subunit 4
ENG endoglin
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPHA2 EPH receptor A2
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
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
ETHE1 ethylmalonic encephalopathy 1
EXOSC3 exosome component 3
EYS eyes shut homolog (Drosophila)
FA2H fatty acid 2-hydroxylase
FAM111A family with sequence similarity 111, member A
FAM161A family with sequence similarity 161, member A
FAM58A family with sequence similarity 58, member A
FANCB Fanconi anemia, complementation group B
FASTKD2 FAST kinase domains 2
FBLN5 fibulin 5
FBN1 fibrillin 1
FGF23 fibroblast growth factor 23
FGF3 fibroblast growth factor 3
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
FLCN folliculin
FLII flightless I homolog (Drosophila)
FLNB filamin B, beta
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FNBP4 formin binding protein 4
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FRG1 FSHD region gene 1
FSCN2 fascin actin-bundling protein 2, retinal
FXN frataxin
FZD4 frizzled class receptor 4
G6PC glucose-6-phosphatase, catalytic subunit
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALC galactosylceramidase
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GALNTL5 polypeptide N-acetylgalactosaminyltransferase-like 5
GATA2 GATA binding protein 2
GATA3 GATA binding protein 3
GCDH glutaryl-CoA dehydrogenase
GDF2 growth differentiation factor 2
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GGCX gamma-glutamyl carboxylase
GJA1 gap junction protein, alpha 1, 43kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GLI2 GLI family zinc finger 2
GMPPA GDP-mannose pyrophosphorylase A
GMPPB GDP-mannose pyrophosphorylase B
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
GPR143 G protein-coupled receptor 143
GRN granulin
GSS glutathione synthetase
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCA1A guanylate cyclase activator 1A (retina)
GUCA1B guanylate cyclase activator 1B (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HARS histidyl-tRNA synthetase
HBB hemoglobin, beta
HCCS holocytochrome c synthase
HESX1 HESX homeobox 1
HEXA hexosaminidase A (alpha polypeptide)
HEXB hexosaminidase B (beta polypeptide)
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HHAT hedgehog acyltransferase
HIRA histone cell cycle regulator
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HMX1 H6 family homeobox 1
HPS1 Hermansky-Pudlak syndrome 1
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IFT80 intraflagellar transport 80
IGBP1 immunoglobulin (CD79A) binding protein 1
IGFBP7 insulin-like growth factor binding protein 7
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL11RA interleukin 11 receptor, alpha
IL12B interleukin 12B
IL12RB2 interleukin 12 receptor, beta 2
IL23R interleukin 23 receptor
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG1 interphotoreceptor matrix proteoglycan 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INVS inversin
IQCB1 IQ motif containing B1
ISPD isoprenoid synthase domain containing
JAG1 jagged 1
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KIF11 kinesin family member 11
KIF1B kinesin family member 1B
KIF7 kinesin family member 7
KIZ kizuna centrosomal protein
KL klotho
KLHL7 kelch-like family member 7
KLLN killin, p53-regulated DNA replication inhibitor
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
KRIT1 KRIT1, ankyrin repeat containing
KRT71 keratin 71, type II
KRT74 keratin 74, type II
L2HGDH L-2-hydroxyglutarate dehydrogenase
LAMA1 laminin, alpha 1
LAMB1 laminin, beta 1
LARGE like-glycosyltransferase
LCA5 Leber congenital amaurosis 5
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
LIMK1 LIM domain kinase 1
LIPH lipase, member H
LPAR6 lysophosphatidic acid receptor 6
LPL lipoprotein lipase
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRP2 low density lipoprotein receptor-related protein 2
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
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
MBTPS2 membrane-bound transcription factor peptidase, site 2
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MCOLN1 mucolipin 1
MED12 mediator complex subunit 12
MEF2C myocyte enhancer factor 2C
MEFV Mediterranean fever
MERTK MER proto-oncogene, tyrosine kinase
MFN2 mitofusin 2
MFRP membrane frizzled-related protein
MFSD8 major facilitator superfamily domain containing 8
MGP matrix Gla protein
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLPH melanophilin
MLX MLX, MAX dimerization protein
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MOGS mannosyl-oligosaccharide glucosidase
MPLKIP M-phase specific PLK1 interacting protein
MT-ATP8 ATP synthase F0 subunit 8
MT-CYB cytochrome b
MT-ND2 MTND2
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
MTTP microsomal triglyceride transfer protein
MUT methylmalonyl CoA mutase
MVK mevalonate kinase
MYD88 myeloid differentiation primary response 88
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
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)
NF2 neurofibromin 2 (merlin)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NIPBL Nipped-B homolog (Drosophila)
NLRP3 NLR family, pyrin domain containing 3
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH3 notch 3
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
NR2E3 nuclear receptor subfamily 2, group E, member 3
NR2F1 nuclear receptor subfamily 2, group F, member 1
NRL neural retina leucine zipper
NT5C2 5'-nucleotidase, cytosolic II
NUBPL nucleotide binding protein-like
NUP62 nucleoporin 62kDa
OAT ornithine aminotransferase
OCA2 oculocutaneous albinism II
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)
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
OPN1SW opsin 1 (cone pigments), short-wave-sensitive
OTX2 orthodenticle homeobox 2
P3H2 prolyl 3-hydroxylase 2
PANK2 pantothenate kinase 2
PAX2 paired box 2
PAX3 paired box 3
PAX6 paired box 6
PCDH15 protocadherin-related 15
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
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
PDHX pyruvate dehydrogenase complex, component X
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
PDZD7 PDZ domain containing 7
PEPD peptidase D
PET100 PET100 homolog (S. cerevisiae)
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PEX7 peroxisomal biogenesis factor 7
PGK1 phosphoglycerate kinase 1
PHYH phytanoyl-CoA 2-hydroxylase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PITPNM3 PITPNM family member 3
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLP1 proteolipid protein 1
PMM2 phosphomannomutase 2
PNPLA6 patatin-like phospholipase domain containing 6
POC1B POC1 centriolar protein B
POLG polymerase (DNA directed), gamma
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
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)
POT1 protection of telomeres 1
POU1F1 POU class 1 homeobox 1
PPT1 palmitoyl-protein thioesterase 1
PRCD progressive rod-cone degeneration
PRDM16 PR domain containing 16
PRDM5 PR domain containing 5
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PROKR2 prokineticin receptor 2
PROM1 prominin 1
PROP1 PROP paired-like homeobox 1
PROS1 protein S (alpha)
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
PRTN3 proteinase 3
PSAP prosaposin
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTF1A pancreas specific transcription factor, 1a
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAB18 RAB18, member RAS oncogene family
RAB23 RAB23, member RAS oncogene family
RAB27A RAB27A, member RAS oncogene family
RAB28 RAB28, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAI1 retinoic acid induced 1
RAX2 retina and anterior neural fold homeobox 2
RB1 retinoblastoma 1
RBM10 RNA binding motif protein 10
RBP3 retinol binding protein 3, interstitial
RBP4 retinol binding protein 4, plasma
RD3 retinal degeneration 3
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RDH5 retinol dehydrogenase 5 (11-cis/9-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
RIMS1 regulating synaptic membrane exocytosis 1
RLBP1 retinaldehyde binding protein 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNF216 ring finger protein 216
RNR1 RNA, ribosomal cluster 1
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
RPIA ribose 5-phosphate isomerase A
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RS1 retinoschisin 1
SACS sacsin molecular chaperone
SAG S-antigen; retina and pineal gland (arrestin)
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SAT1 spermidine/spermine N1-acetyltransferase 1
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)
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
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
SETBP1 SET binding protein 1
SH2B1 SH2B adaptor protein 1
SH3BP2 SH3-domain binding protein 2
SIL1 SIL1 nucleotide exchange factor
SIX6 SIX homeobox 6
SKI SKI proto-oncogene
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC38A8 solute carrier family 38, member 8
SLC45A2 solute carrier family 45, member 2
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC7A14 solute carrier family 7, member 14
SMAD4 SMAD family member 4
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SMOC1 SPARC related modular calcium binding 1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNAP29 synaptosomal-associated protein, 29kDa
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SNX10 sorting nexin 10
SOST sclerostin
SOX10 SRY (sex determining region Y)-box 10
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SPATA7 spermatogenesis associated 7
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STAMBP STAM binding protein
STAT4 signal transducer and activator of transcription 4
STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUMF1 sulfatase modifying factor 1
SURF1 surfeit 1
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TBC1D20 TBC1 domain family, member 20
TBC1D24 TBC1 domain family, member 24
TBC1D7 TBC1 domain family, member 7
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX22 T-box 22
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCTN2 tectonic family member 2
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor)
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFG TRK-fused gene
TGFB1 transforming growth factor, beta 1
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TIMP3 TIMP metallopeptidase inhibitor 3
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TLR4 toll-like receptor 4
TMCO1 transmembrane and coiled-coil domains 1
TMEM114 transmembrane protein 114
TMEM126A transmembrane protein 126A
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM5 transmembrane protein 5
TMEM67 transmembrane protein 67
TMEM98 transmembrane protein 98
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TP53 tumor protein p53
TPI1 triosephosphate isomerase 1
TPP1 tripeptidyl peptidase I
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
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSFM Ts translation elongation factor, mitochondrial
TSPAN12 tetraspanin 12
TTC21B tetratricopeptide repeat domain 21B
TTC8 tetratricopeptide repeat domain 8
TTPA tocopherol (alpha) transfer protein
TUB tubby bipartite transcription factor
TUBA8 tubulin, alpha 8
TUBB tubulin, beta class I
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
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
UBE3B ubiquitin protein ligase E3B
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UFD1L ubiquitin fusion degradation 1 like (yeast)
UNC119 unc-119 homolog (C. elegans)
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VCAN versican
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VSX1 visual system homeobox 1
VSX2 visual system homeobox 2
WDPCP WD repeat containing planar cell polarity effector
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR60 WD repeat domain 60
WFS1 Wolfram syndrome 1 (wolframin)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT3 wingless-type MMTV integration site family, member 3
WRN Werner syndrome, RecQ helicase-like
WWOX WW domain containing oxidoreductase
YAP1 Yes-associated protein 1
ZFYVE26 zinc finger, FYVE domain containing 26
ZNF423 zinc finger protein 423
ZNF469 zinc finger protein 469
ZNF513 zinc finger protein 513
ZNF592 zinc finger protein 592