NEFL, neurofilament light, 4747

N. diseases: 247; N. variants: 26
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58640772
rs58640772
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		TCTCCACGTAGCGC 0.700 CausalMutation CLINVAR