Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.200 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.200 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.200 CausalMutation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.200 GeneticVariation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.200 CausalMutation CLINVAR Clinical and molecular characteristics of childhood-onset Stargardt disease. 25312043

2015
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.200 GeneticVariation CLINVAR Genetic and clinical analysis of ABCA4-associated disease in African American patients. 25066811

2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.200 GeneticVariation CLINVAR ABCA4 gene screening by next-generation sequencing in a British cohort. 23982839

2013
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.200 GeneticVariation CLINVAR Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. 23918662

2013
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.200 GeneticVariation CLINVAR Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy. 22229821

2012
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.200 CausalMutation CLINVAR Analysis of the ABCA4 gene by next-generation sequencing. 21911583

2011
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.200 GeneticVariation CLINVAR The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. 15614537

2005
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.200 GeneticVariation CLINVAR Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1). 11594993

2001
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.200 CausalMutation CLINVAR Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). 11379881

2001
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.200 GeneticVariation CLINVAR An analysis of allelic variation in the ABCA4 gene. 11328725

2001
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.200 CausalMutation CLINVAR A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. 10958763

2000
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.200 GeneticVariation CLINVAR A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. 10958763

2000
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.200 GeneticVariation CLINVAR Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 9973280

1999
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.200 GeneticVariation CLINVAR The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. 10090887

1999
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.200 CausalMutation CLINVAR Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 9973280

1999
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.200 GeneticVariation CLINVAR Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. 9781034

1998
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.200 GeneticVariation CLINVAR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934

1997
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.200 GeneticVariation CLINVAR Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. 9295268

1997