ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
Disease: STARGARDT DISEASE 1 (disorder) ×
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: C1855465
Disease:
STARGARDT DISEASE 1 (disorder) 		GAC 0.700 CausalMutation CLINVAR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934 1997