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: rs886044762
rs886044762
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease:
STARGARDT DISEASE 1 (disorder) 		C 0.700 GeneticVariation CLINVAR Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs. 28118664 2017
dbSNP: rs886044762
rs886044762
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease:
STARGARDT DISEASE 1 (disorder) 		C 0.700 GeneticVariation CLINVAR ABCA4 disease progression and a proposed strategy for gene therapy. 19074458 2009