Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 CausalMutation CLINVAR Bilateral choroidal neovascularization associated with bilateral ABCA4 gene mutation. 21786275

2012
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 GeneticVariation CLINVAR Biochemical defects in ABCR protein variants associated with human retinopathies. 11017087

2000
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 CausalMutation CLINVAR Biochemical defects in ABCR protein variants associated with human retinopathies. 11017087

2000
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 CausalMutation CLINVAR Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration. 11919200

2002
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 GeneticVariation CLINVAR Clinical and genetic characteristics of late-onset Stargardt's disease. 22449572

2012
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 CausalMutation CLINVAR Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function. 23953153

2013
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 GeneticVariation CLINVAR Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function. 23953153

2013
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 CausalMutation CLINVAR Clinical and molecular characteristics of childhood-onset Stargardt disease. 25312043

2015
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 GeneticVariation CLINVAR Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease. 23096905

2012
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 GeneticVariation CLINVAR Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. 22264887

2012
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 CausalMutation CLINVAR Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. 22264887

2012
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 GeneticVariation CLINVAR Clinical evaluation of these families affected by STGD1 showed an unusually high frequency of early age-related macular degeneration (AMD) in parents of patients with STGD1 (8/22; 36%), consistent with the hypothesis that some heterozygous ABCR mutations enhance susceptibility to AMD. 10711710

2000
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 CausalMutation CLINVAR Clinical evaluation of these families affected by STGD1 showed an unusually high frequency of early age-related macular degeneration (AMD) in parents of patients with STGD1 (8/22; 36%), consistent with the hypothesis that some heterozygous ABCR mutations enhance susceptibility to AMD. 10711710

2000
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 GeneticVariation CLINVAR Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. 9503029

1998
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 CausalMutation CLINVAR Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 26047050

2015
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 GeneticVariation CLINVAR Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. 22661472

2012
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 GeneticVariation CLINVAR Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations. 15192030

2004
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 CausalMutation CLINVAR Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 25097241

2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 GeneticVariation CLINVAR Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 25097241

2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 GeneticVariation CLINVAR Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8. 29925512

2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 CausalMutation CLINVAR Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications. 23143460

2012
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 GeneticVariation CLINVAR Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications. 23143460

2012
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 CausalMutation CLINVAR Disease variants in genomes of 44 centenarians. 25333069

2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 CausalMutation CLINVAR Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus. 15579991

2004
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 GeneticVariation CLINVAR Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus. 15579991

2004