NEFL, neurofilament light, 4747

N. diseases: 247; N. variants: 26
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62636503
rs62636503
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C4693509
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G 		0.800 GeneticVariation UNIPROT NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype. 26645395 2016
dbSNP: rs62636503
rs62636503
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C4693509
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G 		0.800 GeneticVariation UNIPROT NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype. 25877835 2015
dbSNP: rs62636503
rs62636503
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C4693509
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G 		0.800 GeneticVariation UNIPROT Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 17052987 2007
dbSNP: rs62636503
rs62636503
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C4693509
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G 		0.800 GeneticVariation UNIPROT The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy. 14733962 2004
dbSNP: rs62636503
rs62636503
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C4693509
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G 		T 0.800 CausalMutation CLINVAR