DisGeNET - a database of gene-disease associations

Source: MGD

Disease: Myotubular (centronuclear) myopathy ×

Gene: LARGE1 ×

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:	9215
Gene Symbol:	LARGE1

LARGE1

LARGE xylosyl- and glucuronyltransferase 1

0.526

0.654

0.99

CUI:	C2875316
Disease:	Myotubular (centronuclear) myopathy

Myotubular (centronuclear) myopathy

disease

0.200

None

1.000

0

2005

2005