MTM1, myotubularin 1, 4534

N. diseases: 125; N. variants: 140
Disease: Charcot-Marie-Tooth disease, Type 4B1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832399
Disease: Charcot-Marie-Tooth disease, Type 4B1
Charcot-Marie-Tooth disease, Type 4B1 		0.020 GeneticVariation disease BEFREE The human neuromuscular diseases X-linked myotubular myopathy and Charcot-Marie-Tooth disease type 4B are caused by mutations in myotubularin family proteins. 16289848 2005
CUI: C1832399
Disease: Charcot-Marie-Tooth disease, Type 4B1
Charcot-Marie-Tooth disease, Type 4B1 		0.020 Biomarker disease BEFREE MTM1, the first identified member of this family, and MTMR2 are responsible for X-linked myotubular myopathy and Charcot-Marie-Tooth disease type 4B1, an isolated peripheral neuropathy with myelin outfoldings, respectively.Both encode active phosphatases. 12687498 2003