ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
Disease: CONE-ROD DYSTROPHY 3 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61750155
rs61750155
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1858806
Disease:
CONE-ROD DYSTROPHY 3 (disorder) 		0.700 GeneticVariation UNIPROT Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. 11527935 2001
dbSNP: rs61750155
rs61750155
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1858806
Disease:
CONE-ROD DYSTROPHY 3 (disorder) 		0.700 GeneticVariation UNIPROT Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies. 11385708 2001
dbSNP: rs61750155
rs61750155
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1858806
Disease:
CONE-ROD DYSTROPHY 3 (disorder) 		0.700 GeneticVariation UNIPROT Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. 10958761 2000