Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 Biomarker disease CTD_human
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 GeneticVariation disease 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 		0.900 GeneticVariation disease CLINVAR Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. 9781034 1998
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 CausalMutation disease CLINVAR Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. 9466990 1998
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 CausalMutation disease 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 		0.900 CausalMutation disease CLINVAR Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene. 10413692 1999
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 GeneticVariation disease UNIPROT 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 		0.900 CausalMutation disease 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 		0.900 CausalMutation disease CLINVAR Biochemical defects in ABCR protein variants associated with human retinopathies. 11017087 2000
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 GeneticVariation disease CLINVAR New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. 10711710 2000
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 GeneticVariation disease UNIPROT Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies. 11385708 2001
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 GeneticVariation disease CLINVAR Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies. 11385708 2001
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 GeneticVariation disease UNIPROT Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. 11527935 2001
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 CausalMutation disease CLINVAR ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. 16103129 2005
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 Biomarker disease MGD Retinol dehydrogenase (RDH12) protects photoreceptors from light-induced degeneration in mice. 17032653 2006
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 GeneticVariation disease CLINVAR ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. 18285826 2008
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 Biomarker disease MGD Accelerated accumulation of lipofuscin pigments in the RPE of a mouse model for ABCA4-mediated retinal dystrophies following Vitamin A supplementation. 18515570 2008
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 CausalMutation disease CLINVAR G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy. 19217903 2009
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 CausalMutation disease CLINVAR ABCA4 disease progression and a proposed strategy for gene therapy. 19074458 2009
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 CausalMutation disease CLINVAR Loss of peripapillary sparing in non-group I Stargardt disease. 20696155 2010
Entrez Id: 8754
Gene Symbol: ADAM9
ADAM9 		0.010 GeneticVariation disease BEFREE An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9. 20806078 2010
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 CausalMutation disease CLINVAR Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients. 22328824 2012
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 CausalMutation disease CLINVAR A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene. 22427542 2012
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 CausalMutation disease CLINVAR Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. 22264887 2012