cone-rod dystrophy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000548
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Genes

12 genes associated with the cone-rod dystrophy 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
ALMS1 Alstrom syndrome protein 1
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4
CRX cone-rod homeobox
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PROM1 prominin 1
RAX2 retina and anterior neural fold homeobox 2
RPGR retinitis pigmentosa GTPase regulator
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SLC19A2 solute carrier family 19 (thiamine transporter), member 2