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 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 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 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 GeneticVariation CLINVAR Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. 14517951

2003
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 GeneticVariation CLINVAR Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients. 25698705

2015
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 CausalMutation CLINVAR Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies. 24713488

2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 CausalMutation CLINVAR Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. 24154662

2014
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 Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease. 17277736

2007
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 GeneticVariation CLINVAR N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population. 17982420

2007
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 CausalMutation CLINVAR Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family. 23443024

2013
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 GeneticVariation CLINVAR Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa. 11687513

2001
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 CausalMutation CLINVAR Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. 22661473

2012
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 CausalMutation CLINVAR Personalized genomic disease risk of volunteers. 24082139

2013
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 GeneticVariation CLINVAR G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy. 19217903

2009
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 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: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 GeneticVariation CLINVAR Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. 10958761

2000
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 CausalMutation CLINVAR Analysis of the ABCA4 gene by next-generation sequencing. 21911583

2011
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 GeneticVariation CLINVAR Novel mutations in of the ABCR gene in Italian patients with Stargardt disease. 19265867

2010
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 High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. 22025579

2011
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 CausalMutation 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: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 GeneticVariation CLINVAR Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform. 16123440

2005