Source: ALL
| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | 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 | Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. | 25802885 | 2015 | ||||
|
0.950 | CausalMutation | disease | CLINVAR | NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype. | 25877835 | 2015 | ||||
|
0.950 | CausalMutation | disease | CLINVAR | Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E. | 26109717 | 2015 | ||||
|
0.950 | CausalMutation | disease | CLINVAR | NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype. | 26645395 | 2016 | ||||
|
0.950 | CausalMutation | disease | CLINVAR | N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophy. | 27206872 | 2016 | ||||
|
0.950 | CausalMutation | disease | CLINVAR | Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. | 27549087 | 2016 | ||||
|
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 |