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: rs398123275
rs398123275
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		T 0.700 CausalMutation CLINVAR Mutation studies in X-linked myotubular myopathy in three Indian families. 20358311 2010
dbSNP: rs398123275
rs398123275
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		T 0.700 CausalMutation CLINVAR Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. 9305655 1997