Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		0.800 GeneticVariation UNIPROT Analysis of human XLMTM patient myotubes showed that mutations that disrupt the interaction between myotubularin and MTMR12 proteins result in reduction of both myotubularin and MTMR12. 23818870

2013
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		0.800 GeneticVariation UNIPROT X-linked myotubular myopathy with a novel MTM1 mutation in a Taiwanese child. 19129059

2008
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		0.800 GeneticVariation UNIPROT Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1. 17005396

2006
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		0.800 GeneticVariation UNIPROT Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. 12522554

2003
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		0.800 GeneticVariation UNIPROT X-linked myotubular myopathy in a family with three adult survivors. 12859411

2003
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		0.800 GeneticVariation UNIPROT Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. 11793470

2002
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		0.800 GeneticVariation UNIPROT X-linked myotubular myopathy (XLMTM; OMIM# 310400) is a severe congenital muscle disease caused by mutations in the myotubularin (MTM1) gene. 12031625

2002
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		0.800 GeneticVariation UNIPROT MTM1 mutations in X-linked myotubular myopathy. 10790201

2000
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		0.800 GeneticVariation UNIPROT Germline mosaicism in X-linked myotubular myopathy. 10466421

1999
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		0.800 GeneticVariation UNIPROT Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy. 10502779

1999
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		0.800 GeneticVariation UNIPROT The heterogeneity of the mutations, their mutational origins, and the varied ethnic backgrounds of the patients, indicate that the majority of XLMTM families are affected by unique MTM1 mutations. 10063835

1999
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		0.800 GeneticVariation UNIPROT X-linked myotubular myopathy was found to be associated with mutations in the MTM1 gene in Xq28 encoding the putative tyrosine phosphatase, myotubularin. 9829274

1998
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		0.800 GeneticVariation UNIPROT Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy. 9285787

1997
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		0.800 GeneticVariation UNIPROT Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. 9305655

1997