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: rs59443585
rs59443585
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		0.020 GeneticVariation BEFREE The reduction of fusion rate by NFL(Q333P) was partly due to interference with the function of the profusion protein MFN2, which is mutated in CMT2A, functionally linking these forms of CMT. 22155564 2012
dbSNP: rs59443585
rs59443585
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		0.020 GeneticVariation BEFREE Since the first description of the Gln333Pro mutation in the NEFL gene, 10 pathogenic mutations in the NEFL gene have been reported in patients affected with CMT disease. 16930284 2006