retinal cone cell degeneration Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description a retrogressive impairment of function or destruction of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment (Mammalian Phenotype Ontology, MP_0008444)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008444
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Genes

15 gene mutations causing the retinal cone cell degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
C1QTNF5 C1q and tumor necrosis factor related protein 5
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CCDC66 coiled-coil domain containing 66
CEP290 centrosomal protein 290kDa
CNGB3 cyclic nucleotide gated channel beta 3
ELOVL4 ELOVL fatty acid elongase 4
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
LPCAT1 lysophosphatidylcholine acyltransferase 1
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime
PEX1 peroxisomal biogenesis factor 1
RP1 retinitis pigmentosa 1 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
USH2A Usher syndrome 2A (autosomal recessive, mild)