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 The phenotype in the group of patients positive for the R345W mutation was extremely variable, with evidence of interocular, intrafamilial, and interfamilial variability in visual loss, natural history, ophthalmoscopic findings, autofluorescence imaging, and psychophysical data. 16799055 2006