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: rs61751420
rs61751420
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease:
STARGARDT DISEASE 1 (disorder) 		0.700 GeneticVariation UNIPROT Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies. 11385708 2001
dbSNP: rs61751420
rs61751420
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease:
STARGARDT DISEASE 1 (disorder) 		0.700 GeneticVariation UNIPROT Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). 11379881 2001
dbSNP: rs61751420
rs61751420
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease:
STARGARDT DISEASE 1 (disorder) 		0.700 GeneticVariation UNIPROT Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. 9781034 1998