Cone Dystrophy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. (Human Disease Ontology, DOID_0050795)
External Link https://www.disgenet.org/browser/0/1/0/C0543968
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Genes

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

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABHD12 abhydrolase domain containing 12
ADGRV1 adhesion G protein-coupled receptor V1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ARAF A-Raf proto-oncogene, serine/threonine kinase
ARL6 ADP-ribosylation factor-like 6
ARR3 arrestin 3, retinal (X-arrestin)
ARRB1 arrestin, beta 1
ATF6 activating transcription factor 6
BBS2 Bardet-Biedl syndrome 2
BBS5 Bardet-Biedl syndrome 5
C21ORF2 chromosome 21 open reading frame 2
CABP4 calcium binding protein 4
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4
CD48 CD48 molecule
CDHR1 cadherin-related family member 1
CERKL ceramide kinase-like
CNGA3 cyclic nucleotide gated channel alpha 3
CNGB3 cyclic nucleotide gated channel beta 3
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4
COG4 component of oligomeric golgi complex 4
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
G6PD glucose-6-phosphate dehydrogenase
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GNGT2 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2
GUCA1A guanylate cyclase activator 1A (retina)
GUCA1B guanylate cyclase activator 1B (retina)
GUCA2A guanylate cyclase activator 2A (guanylin)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
IL2RG interleukin 2 receptor, gamma
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2
MAOA monoamine oxidase A
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NYX nyctalopin
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime
PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma
PITPNM3 PITPNM family member 3
POC1B POC1 centriolar protein B
POMZP3 POM121 and ZP3 fusion
PROM1 prominin 1
PRPH peripherin
PRPH2 peripherin 2 (retinal degeneration, slow)
RAB28 RAB28, member RAS oncogene family
RDH5 retinol dehydrogenase 5 (11-cis/9-cis)
RGS9 regulator of G-protein signaling 9
RGS9BP regulator of G protein signaling 9 binding protein
RLBP1 retinaldehyde binding protein 1
RP1L1 retinitis pigmentosa 1-like 1
RPE ribulose-5-phosphate-3-epimerase
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
SRD5A3 steroid 5 alpha-reductase 3
TSPAN7 tetraspanin 7
TST thiosulfate sulfurtransferase (rhodanese)
TTLL5 tubulin tyrosine ligase-like family member 5
TULP1 tubby like protein 1
USH2A Usher syndrome 2A (autosomal recessive, mild)
VAX2 ventral anterior homeobox 2
VEGFA vascular endothelial growth factor A