decreased retinal cone cell number Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description reduced number 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_0008446)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008446
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Genes

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

Symbol Name
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
C1QTNF5 C1q and tumor necrosis factor related protein 5
CNGB3 cyclic nucleotide gated channel beta 3
GUCA1A guanylate cyclase activator 1A (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
MITF microphthalmia-associated transcription factor
NXNL1 nucleoredoxin-like 1
NXNL2 nucleoredoxin-like 2
OTX2 orthodenticle homeobox 2
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime
PRPH2 peripherin 2 (retinal degeneration, slow)
RPGR retinitis pigmentosa GTPase regulator
RS1 retinoschisin 1
STRA6 stimulated by retinoic acid 6