Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
0.970 GeneticVariation disease BEFREE We report a Chinese man with a homozygous mutation c.675C > T of NDRG1 that resulted in Q185X, representing the third known CMT4D patient of non-European ancestry. 29724652 2018
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
0.970 Biomarker disease GENOMICS_ENGLAND To date, only four mutations in NDRG1 -c.442C>T (p.Arg148*), c.739delC (p.His247Thrfs*74), c.538-1G>A, and duplication of exons 6-8-have been described in CMT4D patients. 28776325 2017
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
0.970 GeneticVariation disease BEFREE To date, only four mutations in NDRG1 -c.442C>T (p.Arg148*), c.739delC (p.His247Thrfs*74), c.538-1G>A, and duplication of exons 6-8-have been described in CMT4D patients. 28776325 2017
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
0.970 GeneticVariation disease BEFREE The identification of this NDRG1 mutation confirms that CMT4D is not a private Romani disease and should be considered in the differential diagnosis of recessive demyelinating CMT. 27982524 2017
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
0.970 GeneticVariation disease BEFREE The characteristic N-Myc downstream-regulated gene 1 (NDRG1) mutation responsible for this CMT4D phenotype was confirmed: p.R148X. 24028195 2013
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
0.970 Biomarker disease BEFREE However, the cellular function of NDRG1 and how it causes CMT4D are poorly understood. 23813961 2013
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
0.970 Biomarker disease MGD CMT4D disease is a severe autosomal recessive demyelinating neuropathy with extensive axonal loss leading to early disability, caused by mutations in the N-myc downstream regulated gene 1 (NDRG1). 21303696 2011
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
0.970 GeneticVariation disease BEFREE This report extends the clinical knowledge of CMT4D and indicates that the role of the R148X mutation in NDRG1 in the central nervous system should be further studied. 17142040 2007
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
0.970 Biomarker disease MGD In this study, we generated mice lacking Ndrg1 to analyze its function and elucidate the pathogenesis of Charcot-Marie-Tooth disease type 4D. 15082788 2004
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
0.970 Biomarker disease BEFREE In this study, we generated mice lacking Ndrg1 to analyze its function and elucidate the pathogenesis of Charcot-Marie-Tooth disease type 4D. 15082788 2004
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
0.970 GermlineCausalMutation disease ORPHANET N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. 10831399 2000
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
0.970 Biomarker disease GENOMICS_ENGLAND N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. 10831399 2000
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
0.970 Biomarker disease GENOMICS_ENGLAND
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
0.970 CausalMutation disease CLINVAR
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
0.970 Biomarker disease CTD_human