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 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: 778
Gene Symbol: CACNA1F
CACNA1F 		0.020 GeneticVariation disease BEFREE A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype. 24124559 2013
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 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: 778
Gene Symbol: CACNA1F
CACNA1F 		0.020 GeneticVariation disease BEFREE Our data support the viewpoint that AED, iCSNB, and X-linked cone-rod dystrophy 3 are designations that refer to a broad, continuous spectrum of clinical appearances caused in the majority by a variety of mutations in CACNA1F. 28002560 2016
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 Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. 30576320 2018