MTM1, myotubularin 1, 4534

N. diseases: 125; N. variants: 140
Disease: X-linked centronuclear myopathy ×
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: 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: 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