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 CausalMutation disease CLINVAR Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. 30576320 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 CausalMutation disease CLINVAR Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. 28181551 2017
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 CausalMutation disease CLINVAR Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe. 26593885 2016
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 CausalMutation disease CLINVAR Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy. 24444108 2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 CausalMutation disease CLINVAR Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 23591405 2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 CausalMutation disease CLINVAR Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. 25082885 2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 CausalMutation disease 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 		0.900 CausalMutation disease CLINVAR Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies. 24713488 2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 CausalMutation disease CLINVAR Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. 24265693 2013
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 GeneticVariation disease CLINVAR Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families. 23755871 2013
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 CausalMutation disease CLINVAR Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families. 23755871 2013
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.900 CausalMutation disease CLINVAR Stargardt disease: towards developing a model to predict phenotype. 23695285 2013
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
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: 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 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 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 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 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