SAG, S-antigen visual arrestin, 6295

N. diseases: 97; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
0.110 GeneticVariation disease BEFREE Most of these are loss-of-function mutations of visual arrestin-1 that cause excessive rhodopsin signaling and hence night blindness. 30711028 2019
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
0.110 Biomarker disease HPO