Gene: NEFH ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4744
Gene Symbol: NEFH
NEFH 		0.040 GeneticVariation disease BEFREE Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family. 30992180 2019
Entrez Id: 4744
Gene Symbol: NEFH
NEFH 		0.040 GeneticVariation disease BEFREE We identified a novel stop loss variant in NEFH that is likely pathogenic for CMT2, and the results provide further evidence for the role of an aberrant assembly of neurofilament in CMT. 29587262 2018
Entrez Id: 4744
Gene Symbol: NEFH
NEFH 		0.040 GeneticVariation disease BEFREE Recently, frameshift variants in NEFH (p.Asp1004Glnfs*58 and p.Pro1008Alafs*56) have been reported to be the underlying cause of axonal Charcot-Marie-Tooth disease type 2CC (CMT2CC). 28544463 2017
Entrez Id: 4744
Gene Symbol: NEFH
NEFH 		0.040 GeneticVariation disease BEFREE Neurofilament heavy chain (NEFH) gene was recently identified to cause autosomal dominant axonal Charcot-Marie-Tooth disease (CMT2cc). 28709447 2017