Disease: Vitelliform Macular Dystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs713993049
rs713993049
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.010 GeneticVariation BEFREE Furthermore, we found heterozygous mutations including three stop [p.(Glu226*), p.(Ser522*), p.(Gln856*)] and five missense mutations [p.(Ala243Pro), p.(Gly1008Asp), p.(Phe1016Ser), p.(Tyr1042Cys), p.(Cys1077Phe)] in the <i>IMPG2</i> gene, one of them, p.(Cys1077Phe), previously associated with VMD. 28644393 2017