NDRG1, N-myc downstream regulated 1, 10397

N. diseases: 225; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0442874
Disease: Neuropathy
Neuropathy
0.010 Biomarker group BEFREE We detected an ~6.25 kb homozygous intragenic duplication in NDRG1, a gene known to be causative for recessive HMSNL/CMT4D, in three individuals from a Turkish family with CMT neuropathy. 24136616 2014