NEFL, neurofilament light, 4747

N. diseases: 247; N. variants: 26
Disease: Charcot-Marie-Tooth disease, demyelinating, Type 1F ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs60261494
rs60261494
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843164
Disease:
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		0.800 GeneticVariation UNIPROT
dbSNP: rs60261494
rs60261494
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843164
Disease:
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		CT 0.800 CausalMutation CLINVAR
dbSNP: rs58982919
rs58982919
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843164
Disease:
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		0.700 GeneticVariation UNIPROT Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. 15241803 2004
dbSNP: rs61491953
rs61491953
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843164
Disease:
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		0.700 GeneticVariation UNIPROT Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. 15241803 2004
dbSNP: rs58982919
rs58982919
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843164
Disease:
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		0.700 GeneticVariation UNIPROT Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. 12566280 2003
dbSNP: rs61491953
rs61491953
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843164
Disease:
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		0.700 GeneticVariation UNIPROT Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. 12566280 2003
dbSNP: rs121913663
rs121913663
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843164
Disease:
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		A 0.700 CausalMutation CLINVAR
dbSNP: rs199422214
rs199422214
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843164
Disease:
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		A 0.700 CausalMutation CLINVAR
dbSNP: rs58332872
rs58332872
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843164
Disease:
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		0.700 GeneticVariation UNIPROT