Source: CURATED ×
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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C | 0.700 | CausalMutation | CLINVAR | NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype. | 26645395 | 2016 |
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C | 0.700 | CausalMutation | CLINVAR | N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophy. | 27206872 | 2016 |
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C | 0.700 | CausalMutation | CLINVAR | Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype. | 25552649 | 2015 |
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C | 0.700 | CausalMutation | CLINVAR | Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties. | 25448007 | 2015 |
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C | 0.700 | CausalMutation | CLINVAR | Genetic spectrum of hereditary neuropathies with onset in the first year of life. | 21840889 | 2011 |
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C | 0.700 | CausalMutation | CLINVAR | Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype. | 19158810 | 2009 |
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C | 0.700 | CausalMutation | CLINVAR | Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. | 12566280 | 2003 |
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C | 0.700 | CausalMutation | CLINVAR | Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals. | 12477167 | 2002 |