abnormality of color vision Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly in the ability to discriminate between or recognize colors. (Human Phenotype Ontology, HP_0000551)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000551
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Genes

65 genes associated with the abnormality of color vision 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
ADAM9 ADAM metallopeptidase domain 9
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ANOS1 anosmin 1
BEST1 bestrophin 1
C12ORF65 chromosome 12 open reading frame 65
C8ORF37 chromosome 8 open reading frame 37
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4
CDHR1 cadherin-related family member 1
CHD7 chromodomain helicase DNA binding protein 7
CNGA3 cyclic nucleotide gated channel alpha 3
CNGB3 cyclic nucleotide gated channel beta 3
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4
CRX cone-rod homeobox
DUSP6 dual specificity phosphatase 6
FEZF1 FEZ family zinc finger 1
FGF17 fibroblast growth factor 17
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FLRT3 fibronectin leucine rich transmembrane protein 3
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
GUCA1A guanylate cyclase activator 1A (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HBB hemoglobin, beta
HESX1 HESX homeobox 1
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
IL17RD interleukin 17 receptor D
IMPG1 interphotoreceptor matrix proteoglycan 1
KISS1R KISS1 receptor
MFN2 mitofusin 2
NR2E3 nuclear receptor subfamily 2, group E, member 3
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
OFD1 oral-facial-digital syndrome 1
OPA1 optic atrophy 1 (autosomal dominant)
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
OPN1SW opsin 1 (cone pigments), short-wave-sensitive
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime
PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma
PITPNM3 PITPNM family member 3
POC1B POC1 centriolar protein B
POLG polymerase (DNA directed), gamma
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PROM1 prominin 1
PRPH2 peripherin 2 (retinal degeneration, slow)
RAB28 RAB28, member RAS oncogene family
RAX2 retina and anterior neural fold homeobox 2
RIMS1 regulating synaptic membrane exocytosis 1
RLBP1 retinaldehyde binding protein 1
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SOX10 SRY (sex determining region Y)-box 10
SPRY4 sprouty homolog 4 (Drosophila)
TACR3 tachykinin receptor 3
TMEM126A transmembrane protein 126A
UNC119 unc-119 homolog (C. elegans)
WDR11 WD repeat domain 11
WFS1 Wolfram syndrome 1 (wolframin)