Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Unspecified visual loss
CUI: C3665346
Disease: Unspecified visual loss
0.010 GeneticVariation BEFREE P23H is the most common mutation in the RHODOPSIN (RHO) gene leading to a dominant form of retinitis pigmentosa (RP), a rod photoreceptor degeneration that invariably causes vision loss. 29281027 2018