MTM1, myotubularin 1, 4534

N. diseases: 125; N. variants: 140
Disease: X-linked centronuclear myopathy ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587783764
rs587783764 		1.000 0.080 X 150658000 missense variant G/T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 15 1997 2013