congenital stationary night blindness Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0007642
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Genes

11 genes associated with the congenital stationary night blindness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations 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
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)
TRPM1 transient receptor potential cation channel, subfamily M, member 1