Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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|
0.800 | GeneticVariation | UNIPROT | Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia. | 26493561 | 2015 |
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|
0.800 | GeneticVariation | UNIPROT | Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients. | 24903488 | 2014 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia. | 18521937 | 2008 |
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|
0.800 | GeneticVariation | UNIPROT | Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit. | 15743887 | 2005 |
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|
0.800 | GeneticVariation | UNIPROT | Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. | 15712225 | 2005 |
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|
0.800 | GeneticVariation | UNIPROT | Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. | 14757870 | 2004 |
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|
0.800 | GeneticVariation | UNIPROT | CNGA3 mutations in hereditary cone photoreceptor disorders. | 11536077 | 2001 |
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|
0.800 | GeneticVariation | UNIPROT | Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. | 9662398 | 1998 |
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|
T | 0.800 | CausalMutation | CLINVAR |