congenital stationary night blindness Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. (Human Disease Ontology, DOID_0050534)
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Genes

13 genes involed in the disease congenital stationary night blindness from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
CABP4 calcium binding protein 4
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
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
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
RHO rhodopsin
SAG S-antigen; retina and pineal gland (arrestin)
SLC24A1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
TRPM1 transient receptor potential cation channel, subfamily M, member 1