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: rs61749409
rs61749409
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1858806
Disease:
CONE-ROD DYSTROPHY 3 (disorder) 		A 0.700 CausalMutation CLINVAR Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. 28181551 2017
dbSNP: rs61749409
rs61749409
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1858806
Disease:
CONE-ROD DYSTROPHY 3 (disorder) 		A 0.700 CausalMutation CLINVAR Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy. 24444108 2014
dbSNP: rs61749409
rs61749409
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1858806
Disease:
CONE-ROD DYSTROPHY 3 (disorder) 		A 0.700 CausalMutation CLINVAR Stargardt disease: towards developing a model to predict phenotype. 23695285 2013
dbSNP: rs61749409
rs61749409
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1858806
Disease:
CONE-ROD DYSTROPHY 3 (disorder) 		A 0.700 CausalMutation CLINVAR Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families. 23755871 2013
dbSNP: rs61749409
rs61749409
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1858806
Disease:
CONE-ROD DYSTROPHY 3 (disorder) 		A 0.700 CausalMutation CLINVAR ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. 16103129 2005
dbSNP: rs61749409
rs61749409
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1858806
Disease:
CONE-ROD DYSTROPHY 3 (disorder) 		A 0.700 CausalMutation CLINVAR Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 9973280 1999