cone-rod dystrophy Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A retinal degeneration that is an inherited progressive disease that causes deterioration of the cone and rod photoreceptor cells and often results in blindness. (Human Disease Ontology, DOID_0050572)
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22 genes involed in the disease cone-rod dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ADAM9 ADAM metallopeptidase domain 9
ALMS1 Alstrom syndrome protein 1
C8ORF37 chromosome 8 open reading frame 37
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CDHR1 cadherin-related family member 1
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4
CRX cone-rod homeobox
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PITPNM3 PITPNM family member 3
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
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
TTLL5 tubulin tyrosine ligase-like family member 5
UNC119 unc-119 homolog (C. elegans)