DisGeNET - a database of gene-disease associations

Gene: CHKB ×

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	1120
Gene Symbol:	CHKB

CHKB

CUI:	C2875316
Disease:	Myotubular (centronuclear) myopathy

Myotubular (centronuclear) myopathy

0.200

Biomarker

MGD

A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis.

2006