NEFL, neurofilament light, 4747

N. diseases: 247; N. variants: 26
Disease: Hereditary Motor and Sensory Neuropathy Type I ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607538
rs267607538
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0751036
Disease:
Hereditary Motor and Sensory Neuropathy Type I 		0.710 GeneticVariation BEFREE NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1. 18758688 2008
dbSNP: rs267607538
rs267607538
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0751036
Disease:
Hereditary Motor and Sensory Neuropathy Type I 		C 0.710 CausalMutation CLINVAR