ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
Disease: Macular dystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800553
rs1800553
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0730292
Disease:
Macular dystrophy 		0.720 GeneticVariation BEFREE Homozygosity for a novel complex allele G1961E/L857P causes a childhood-onset cone-rod dystrophy rather than the young-adult-onset macular dystrophy that is associated with G1961E alone. 31318848 2019
dbSNP: rs1800553
rs1800553
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0730292
Disease:
Macular dystrophy 		T 0.720 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
dbSNP: rs1800553
rs1800553
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0730292
Disease:
Macular dystrophy 		0.720 GeneticVariation BEFREE Three patients had a Gly1961Glu missense mutation, the most common variant in Stargardt disease (STGD), with 2 of these subjects having a macular dystrophy (MD) phenotype and a second ABCA4 variant previously associated with STGD. 18024811 2007
dbSNP: rs1800553
rs1800553
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0730292
Disease:
Macular dystrophy 		T 0.720 GeneticVariation CLINVAR Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. 9295268 1997