DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: X-linked centronuclear myopathy ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	4534
Gene Symbol:	MTM1

MTM1

myotubularin 1

0.573

0.731

1.00

CUI:	C0410203
Disease:	X-linked centronuclear myopathy

X-linked centronuclear myopathy

disease

0.800

definitive

1.000

1995

2019