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: rs58332872
rs58332872
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		0.010 GeneticVariation BEFREE Hearing impairment is often linked to CMT due to pathogenic variants of NEFL, especially p.(Glu90Lys) and p.(Asn98Ser), and in our case p.(Glu90Gly). 30734407 2019