DisGeNET - a database of gene-disease associations

Source: BEFREE ×

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C1449563
Disease:	Cardiomyopathy, Familial Idiopathic

Cardiomyopathy, Familial Idiopathic

0.010

AlteredExpression

disease

BEFREE

In case of myocardial insufficiency and DCM, decreased expression of COX 4 results in an impaired CytOx activity.

2018