MTM1, myotubularin 1, 4534

N. diseases: 125; N. variants: 140
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781933660
rs781933660
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		A 0.810 CausalMutation CLINVAR Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. 25957634 2015
dbSNP: rs132630304
rs132630304
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		0.810 GeneticVariation BEFREE The Mtm1δ4 and Mtm1 p.R69C mice model severely and moderately symptomatic XLMTM, respectively, due to differences in the degree of myotubularin deficiency. 23307925 2013
dbSNP: rs781933660
rs781933660
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		0.810 GeneticVariation UNIPROT Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. 23818870 2013
dbSNP: rs132630304
rs132630304
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		0.810 GeneticVariation UNIPROT Clinical utility gene card for: Centronuclear and myotubular myopathies. 22617344 2012
dbSNP: rs781933660
rs781933660
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		0.810 GeneticVariation UNIPROT Clinical utility gene card for: Centronuclear and myotubular myopathies. 22617344 2012
dbSNP: rs781933660
rs781933660
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		A 0.810 CausalMutation CLINVAR """Necklace"" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy." 19084976 2009
dbSNP: rs781933660
rs781933660
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		0.810 GeneticVariation UNIPROT X-linked myotubular myopathy with a novel MTM1 mutation in a Taiwanese child. 19129059 2008
dbSNP: rs781933660
rs781933660
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		A 0.810 CausalMutation CLINVAR Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1. 17005396 2006
dbSNP: rs781933660
rs781933660
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		0.810 GeneticVariation UNIPROT Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1. 17005396 2006
dbSNP: rs781933660
rs781933660
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		0.810 GeneticVariation BEFREE Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1. 17005396 2006
dbSNP: rs781933660
rs781933660
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		0.810 GeneticVariation UNIPROT X-linked myotubular myopathy in a family with three adult survivors. 12859411 2003
dbSNP: rs781933660
rs781933660
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		0.810 GeneticVariation UNIPROT Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. 12522554 2003
dbSNP: rs781933660
rs781933660
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		A 0.810 CausalMutation CLINVAR The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles. 12118066 2002
dbSNP: rs781933660
rs781933660
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		0.810 GeneticVariation UNIPROT Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC). 12031625 2002
dbSNP: rs781933660
rs781933660
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		0.810 GeneticVariation UNIPROT Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. 11793470 2002
dbSNP: rs781933660
rs781933660
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		0.810 GeneticVariation UNIPROT MTM1 mutations in X-linked myotubular myopathy. 10790201 2000
dbSNP: rs781933660
rs781933660
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		0.810 GeneticVariation UNIPROT Germline mosaicism in X-linked myotubular myopathy. 10466421 1999
dbSNP: rs781933660
rs781933660
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		0.810 GeneticVariation UNIPROT Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients. 10063835 1999
dbSNP: rs781933660
rs781933660
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		0.810 GeneticVariation UNIPROT Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy. 10502779 1999
dbSNP: rs781933660
rs781933660
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		0.810 GeneticVariation UNIPROT MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy. 9829274 1998
dbSNP: rs781933660
rs781933660
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		A 0.810 CausalMutation CLINVAR Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy. 9285787 1997
dbSNP: rs781933660
rs781933660
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		0.810 GeneticVariation UNIPROT Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy. 9285787 1997
dbSNP: rs781933660
rs781933660
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		0.810 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
dbSNP: rs132630304
rs132630304
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		T 0.810 CausalMutation CLINVAR
dbSNP: rs132630304
rs132630304
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		G 0.810 CausalMutation CLINVAR