Gene: ABCA4 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 CausalMutation group CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 GeneticVariation group CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 CausalMutation group 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 		0.200 GeneticVariation group 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 		0.200 CausalMutation group CLINVAR Clinical and molecular characteristics of childhood-onset Stargardt disease. 25312043 2015
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 GeneticVariation group CLINVAR Genetic and clinical analysis of ABCA4-associated disease in African American patients. 25066811 2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 GeneticVariation group CLINVAR ABCA4 gene screening by next-generation sequencing in a British cohort. 23982839 2013
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 GeneticVariation group CLINVAR Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. 23918662 2013
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 GeneticVariation group CLINVAR Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy. 22229821 2012
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 CausalMutation group CLINVAR Analysis of the ABCA4 gene by next-generation sequencing. 21911583 2011
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 GeneticVariation group CLINVAR The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. 15614537 2005
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 GeneticVariation group CLINVAR Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1). 11594993 2001
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 CausalMutation group 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 		0.200 GeneticVariation group CLINVAR An analysis of allelic variation in the ABCA4 gene. 11328725 2001
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 CausalMutation group 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 		0.200 GeneticVariation group 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 		0.200 GeneticVariation group 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 		0.200 GeneticVariation group 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 		0.200 CausalMutation group 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 		0.200 GeneticVariation group CLINVAR Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. 9781034 1998
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 GeneticVariation group 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 		0.200 GeneticVariation group CLINVAR Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. 9295268 1997