DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Dystonia ×

Gene: CHMP2B ×

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	25978
Gene Symbol:	CHMP2B

CHMP2B

CUI:	C0013421
Disease:	Dystonia

Dystonia

0.400

Biomarker

GENOMICS_ENGLAND

CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.

2008

Entrez Id:	25978
Gene Symbol:	CHMP2B

CHMP2B

CUI:	C0013421
Disease:	Dystonia

Dystonia

0.400

Biomarker

GENOMICS_ENGLAND