Abnormality Of Macular Pigmentation Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Abnormality of macular or foveal pigmentation. (Human Phenotype Ontology, HP_0008002)
External Link https://www.disgenet.org/browser/0/1/0/C4024756
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Genes

25 genes associated with the disease Abnormality Of Macular Pigmentation 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
CABP4 calcium binding protein 4
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4
CDH3 cadherin 3, type 1, P-cadherin (placental)
CNGB3 cyclic nucleotide gated channel beta 3
ELOVL4 ELOVL fatty acid elongase 4
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GPR179 G protein-coupled receptor 179
GRK1 G protein-coupled receptor kinase 1
GRM6 glutamate receptor, metabotropic 6
LRIT3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3
NYX nyctalopin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PROM1 prominin 1
PRPH2 peripherin 2 (retinal degeneration, slow)
RD3 retinal degeneration 3
RHO rhodopsin
SAG S-antigen; retina and pineal gland (arrestin)
SLC24A1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
TRPM1 transient receptor potential cation channel, subfamily M, member 1