| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.250 | GeneticVariation | disease | BEFREE | A novel homozygous NDRG1 mutation in a Chinese patient with Charcot-Marie-Tooth disease 4D. | 29724652 | 2018 | ||||
|
0.250 | Biomarker | disease | 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 | ||||
|
0.250 | GeneticVariation | disease | BEFREE | Four private mutations responsible for three forms demyelinating of Charcot-Marie-Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been associated with the Gypsy population: the NDRG1 p.R148X in CMT type 4D (CMT4D/HMSN-Lom); p.C737_P738delinsX and p.R1109X mutations in the SH3TC2 gene (CMT4C); and a G>C change in a novel alternative untranslated exon in the HK1 gene causative of CMT4G (CMT4G/HMSN-Russe). | 22978647 | 2013 | ||||
|
0.250 | Biomarker | disease | MGD | Ndrg1 in development and maintenance of the myelin sheath. | 21303696 | 2011 | ||||
|
0.250 | Biomarker | disease | BEFREE | NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement. | 17142040 | 2007 | ||||
|
0.250 | Biomarker | disease | MGD | Ndrg1-deficient mice exhibit a progressive demyelinating disorder of peripheral nerves. | 15082788 | 2004 | ||||
|
0.250 | GeneticVariation | disease | LHGDN | Sequence analysis of NDRG1 in 104 CMT patients of diverse ethnicity identified one novel disease-causing mutation, IVS8-1G>A (g.2290787G>A), which affects the splice-acceptor site of IVS8 and results in the skipping of exon 9. | 12872253 | 2003 | ||||
|
0.250 | GeneticVariation | disease | BEFREE | Sequence analysis of NDRG1 in 104 CMT patients of diverse ethnicity identified one novel disease-causing mutation, IVS8-1G>A (g.2290787G>A), which affects the splice-acceptor site of IVS8 and results in the skipping of exon 9. | 12872253 | 2003 |