ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
Disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906385
rs387906385
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1859486
Disease:
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY 		GAC 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019