Disease: Adult-Onset Vitelliform Macular Dystrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adult-Onset Vitelliform Macular Dystrophy
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
0.010 GeneticVariation BEFREE Besides 4 previously reported mutations (p.Ser16Phe, p.Ser144Asn, p.Glu292Lys, p.Glu300Lys), 2 novel disease-causing mutations (p.Thr307Asp, p.Arg47His) were identified, of which p.Arg47His has been reported in adult-onset vitelliform macular dystrophy. 27078032 2016