| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.720 | GeneticVariation | BEFREE | NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. | 29674119 | 2018 |
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|
A | 0.720 | CausalMutation | CLINVAR | Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants. | 26018082 | 2015 |
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|
A | 0.720 | CausalMutation | CLINVAR | The p.Glu257Lys variant was 80-fold less frequent in a homozygous state in patients with Leber congenital amaurosis than predicted based on its heterozygosity frequency in the European American population. | 24830548 | 2014 |
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|
0.720 | GeneticVariation | BEFREE | The p.Glu257Lys variant was 80-fold less frequent in a homozygous state in patients with Leber congenital amaurosis than predicted based on its heterozygosity frequency in the European American population. | 24830548 | 2014 |
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|
A | 0.720 | CausalMutation | CLINVAR | Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. | 22842230 | 2012 |
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|
A | 0.720 | CausalMutation | CLINVAR | Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. | 22842231 | 2012 |
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|
A | 0.720 | GeneticVariation | CLINVAR | Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. | 22842231 | 2012 |
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|
A | 0.720 | CausalMutation | CLINVAR | NMNAT1 mutations cause Leber congenital amaurosis. | 22842227 | 2012 |
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|
A | 0.720 | CausalMutation | CLINVAR | Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. | 22842229 | 2012 |