MTMR2, myotubularin related protein 2, 8898

N. diseases: 50; N. variants: 15
Disease: Charcot-Marie-Tooth disease type 4 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.120 GeneticVariation disease BEFREE To identify the genetic cause of an autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4B (CMT4B) family. 23749797 2013
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.120 Biomarker disease BEFREE We previously reported that autosomal recessive demyelinating Charcot-Marie-Tooth (CMT) type 4B1 neuropathy with myelin outfoldings is caused by loss of MTMR2 (Myotubularin-related 2) in humans, and we created a faithful mouse model of the disease. 22028665 2011
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.120 CausalMutation disease CLINVAR Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. 10802647 2000
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.120 GeneticVariation disease CLINVAR Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. 10802647 2000