ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
Disease: Cone Dystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61753046
rs61753046
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0730290
Disease:
Cone Dystrophy 		A 0.700 CausalMutation CLINVAR Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. 10958761 2000