| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis. | 30319355 | 2018 |
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|
0.700 | GeneticVariation | UNIPROT | Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred. | 27475985 | 2016 |
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|
0.700 | GeneticVariation | UNIPROT | Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. | 21602930 | 2011 |
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|
0.700 | GeneticVariation | UNIPROT | Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. | 17724218 | 2007 |
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|
0.700 | GeneticVariation | UNIPROT | Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects. | 15123990 | 2004 |
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|
0.700 | GeneticVariation | UNIPROT | Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations. | 12365911 | 2002 |
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|
0.700 | GeneticVariation | UNIPROT | Mutational analysis and clinical correlation in Leber congenital amaurosis. | 11035546 | 2000 |
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|
0.700 | GeneticVariation | UNIPROT | Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis. | 9888789 | 1999 |
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|
0.700 | GeneticVariation | UNIPROT | Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. | 8944027 | 1996 |