NEFL, neurofilament light, 4747

N. diseases: 247; N. variants: 26
Disease: Charcot-Marie-Tooth Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62636505
rs62636505
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		0.010 GeneticVariation BEFREE A novel NEFL mutation (p.L93P) was detected in 1 family with 4 affected individuals exhibiting a severe CMT phenotype. 17620486 2007