rs771096255, MAD2L1BP

N. diseases: 1
Disease: Axonal neuropathy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Axonal neuropathy
CUI: C0270921
Disease: Axonal neuropathy
0.010 GeneticVariation BEFREE We found a novel MFN2 mutation - c.283A>G (p.Arg95Gly) - that results in an axonal neuropathy with variable clinical severity in a multigenerational family. 30642740 2019