Source: ALL
| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype. | 25877835 | 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 | Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype. | 19158810 | 2009 | ||||
|
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 | CausalMutation | disease | CLINVAR | Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E. | 26109717 | 2015 | ||||
|
0.950 | CausalMutation | disease | CLINVAR | The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. | 22206013 | 2011 | ||||
|
0.950 | GeneticVariation | disease | UNIPROT | The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. | 22206013 | 2011 | ||||
|
0.950 | CausalMutation | disease | CLINVAR | The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy. | 14733962 | 2004 |