DisGeNET - a database of gene-disease associations

Source: CLINGEN

Disease: Hypertrophic Cardiomyopathy ×

Gene: MYOZ2 ×

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:	51778
Gene Symbol:	MYOZ2

MYOZ2

CUI:	C0007194
Disease:	Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy

0.340

Biomarker

CLINGEN

Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity.

22987565

2013

Entrez Id:	51778
Gene Symbol:	MYOZ2

MYOZ2

CUI:	C0007194
Disease:	Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy

0.340

Biomarker

CLINGEN

Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathy.

18591919

2008

Entrez Id:	51778
Gene Symbol:	MYOZ2

MYOZ2

CUI:	C0007194
Disease:	Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy

0.340

Biomarker

CLINGEN

Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy.

17347475

2007

Entrez Id:	51778
Gene Symbol:	MYOZ2

MYOZ2

CUI:	C0007194
Disease:	Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy

0.340

Biomarker

CLINGEN

Calsarcins, a novel family of sarcomeric calcineurin-binding proteins.

11114196

2000