abnormal retinal pigmentation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0007703
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Genes

240 genes associated with the abnormal retinal pigmentation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABHD12 abhydrolase domain containing 12
ADAM9 ADAM metallopeptidase domain 9
ADGRV1 adhesion G protein-coupled receptor V1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
AMACR alpha-methylacyl-CoA racemase
APC adenomatous polyposis coli
APOB apolipoprotein B
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
ASPA aspartoacylase
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATXN2 ataxin 2
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
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BEST1 bestrophin 1
BTD biotinidase
C1QTNF5 C1q and tumor necrosis factor related protein 5
C2ORF71 chromosome 2 open reading frame 71
C8ORF37 chromosome 8 open reading frame 37
CA4 carbonic anhydrase IV
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
CBS cystathionine-beta-synthase
CC2D2A coiled-coil and C2 domain containing 2A
CDH23 cadherin-related 23
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDHR1 cadherin-related family member 1
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CERKL ceramide kinase-like
CHM choroideremia (Rab escort protein 1)
CIB2 calcium and integrin binding family member 2
CLDN19 claudin 19
CLN3 ceroid-lipofuscinosis, neuronal 3
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
COL11A1 collagen, type XI, alpha 1
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COX1
COX2
COX3
COX7B cytochrome c oxidase subunit VIIb
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSD cathepsin D
DFNB31 deafness, autosomal recessive 31
DHDDS dehydrodolichyl diphosphate synthase
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EDN3 endothelin 3
EDNRB endothelin receptor type B
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
EYS eyes shut homolog (Drosophila)
FAM161A family with sequence similarity 161, member A
FLCN folliculin
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FSCN2 fascin actin-bundling protein 2, retinal
GATA3 GATA binding protein 3
GDF6 growth differentiation factor 6
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
GSS glutathione synthetase
GUCA1A guanylate cyclase activator 1A (retina)
GUCA1B guanylate cyclase activator 1B (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HARS histidyl-tRNA synthetase
HCCS holocytochrome c synthase
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IDS iduronate 2-sulfatase
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IFT80 intraflagellar transport 80
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG1 interphotoreceptor matrix proteoglycan 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INVS inversin
IQCB1 IQ motif containing B1
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
KIF11 kinesin family member 11
KIZ kizuna centrosomal protein
KLHL7 kelch-like family member 7
LCA5 Leber congenital amaurosis 5
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LZTFL1 leucine zipper transcription factor-like 1
MAK male germ cell-associated kinase
MCOLN1 mucolipin 1
MERTK MER proto-oncogene, tyrosine kinase
MFRP membrane frizzled-related protein
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
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-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTTP microsomal triglyceride transfer protein
MVK mevalonate kinase
MYO7A myosin VIIA
ND1
NEK2 NIMA-related kinase 2
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
OFD1 oral-facial-digital syndrome 1
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
PANK2 pantothenate kinase 2
PAX6 paired box 6
PCDH15 protocadherin-related 15
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
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDZD7 PDZ domain containing 7
PEPD peptidase D
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PEX7 peroxisomal biogenesis factor 7
PHYH phytanoyl-CoA 2-hydroxylase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PITPNM3 PITPNM family member 3
PMM2 phosphomannomutase 2
PNPLA6 patatin-like phospholipase domain containing 6
POC1B POC1 centriolar protein B
PRCD progressive rod-cone degeneration
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)
PRRT2 proline-rich transmembrane protein 2
PTEN phosphatase and tensin homolog
RAB18 RAB18, 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)
RAX2 retina and anterior neural fold homeobox 2
RBP3 retinol binding protein 3, interstitial
RD3 retinal degeneration 3
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
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
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
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SAG S-antigen; retina and pineal gland (arrestin)
SCN1A sodium channel, voltage gated, type I alpha subunit
SDCCAG8 serologically defined colon cancer antigen 8
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
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
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SOX10 SRY (sex determining region Y)-box 10
SPATA7 spermatogenesis associated 7
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
SUMF1 sulfatase modifying factor 1
TBC1D20 TBC1 domain family, member 20
TMEM98 transmembrane protein 98
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TRIM32 tripartite motif containing 32
TTC21B tetratricopeptide repeat domain 21B
TTC8 tetratricopeptide repeat domain 8
TTPA tocopherol (alpha) transfer protein
TUB tubby bipartite transcription factor
TUBGCP6 tubulin, gamma complex associated protein 6
TULP1 tubby like protein 1
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)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WDPCP WD repeat containing planar cell polarity effector
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR60 WD repeat domain 60
WRN Werner syndrome, RecQ helicase-like
ZNF513 zinc finger protein 513