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: rs132630302
rs132630302
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Centronuclear and myotubular myopathies. 22617344 2012
dbSNP: rs132630302
rs132630302
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		G 0.800 CausalMutation CLINVAR