ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
Disease: Stargardt's disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61750200
rs61750200
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease:
Stargardt's disease 		0.020 GeneticVariation BEFREE Compound heterozygous missense mutations were observed in patients with Stargardt disease (Arg212Cys, Argl107Cys, Gly1977Ser, Arg2107His, and le2113Met). 10458172 1999
dbSNP: rs61750200
rs61750200
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease:
Stargardt's disease 		0.020 GeneticVariation BEFREE The discovery of a splicing mutation (571: 2A-->G) and missense mutations in the newly identified exons (R18W, R212C) gives additional support to the broad allelic heterogeneity of Stargardt disease. 9503029 1998