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: rs1057516031
rs1057516031
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0410203
Disease:
X-linked centronuclear myopathy 		T 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016