Source: ALL
Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.950 | CausalMutation | disease | CLINVAR | Genetic spectrum of hereditary neuropathies with onset in the first year of life. | 21840889 | 2011 | ||||
|
0.950 | Biomarker | disease | MGD | Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype. | 25552649 | 2015 | ||||
|
0.950 | CausalMutation | disease | CLINVAR | Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype. | 25552649 | 2015 | ||||
|
0.950 | GeneticVariation | disease | UNIPROT | Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. | 15241803 | 2004 | ||||
|
0.950 | Biomarker | disease | BEFREE | Charcot-Marie-Tooth disease Type 2E/1F (CMT2E/1F) is a peripheral neuropathy caused by mutations in neurofilament protein L (NFL), which is one of five neurofilament subunit proteins that co-assemble to form neurofilaments in vivo. | 31574566 | 2019 | ||||
|
0.950 | Biomarker | disease | CTD_human | |||||||
|
0.950 | GeneticVariation | disease | BEFREE | Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E. | 24887401 | 2014 | ||||
|
0.950 | Biomarker | disease | GENOMICS_ENGLAND | A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. | 10841809 | 2000 | ||||
|
0.950 | CausalMutation | disease | CLINVAR | Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties. | 25448007 | 2015 | ||||
|
0.950 | GeneticVariation | disease | UNIPROT | Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. | 11220745 | 2001 |