| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting. | 25910913 | 2015 |
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T | 0.700 | GeneticVariation | CLINVAR | Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. | 25472526 | 2015 |
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T | 0.700 | GeneticVariation | CLINVAR | Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. | 25082885 | 2014 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Genetic and clinical analysis of ABCA4-associated disease in African American patients. | 25066811 | 2014 |
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|
T | 0.700 | GeneticVariation | CLINVAR | ABCA4 gene screening by next-generation sequencing in a British cohort. | 23982839 | 2013 |
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T | 0.700 | GeneticVariation | CLINVAR | Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients. | 22328824 | 2012 |
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|
T | 0.700 | GeneticVariation | CLINVAR | G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy. | 19217903 | 2009 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations. | 17325179 | 2007 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. | 14517951 | 2003 |
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T | 0.700 | GeneticVariation | CLINVAR | A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. | 10612508 | 1999 |
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T | 0.700 | GeneticVariation | CLINVAR | Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. | 9973280 | 1999 |