Retinal Cone Dystrophy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1835897
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Genes

12 genes associated with the disease Retinal Cone Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
BEST1 bestrophin 1
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4
DLG4 discs, large homolog 4 (Drosophila)
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
GUCA1A guanylate cyclase activator 1A (retina)
GUCA2A guanylate cyclase activator 2A (guanylin)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2
PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma
PITPNM3 PITPNM family member 3
PTK2B protein tyrosine kinase 2 beta
PUM3 pumilio RNA binding family member 3