DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Cardiomyopathy, Familial Idiopathic ×

Gene: TTN ×

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:	7273
Gene Symbol:	TTN

TTN

CUI:	C1449563
Disease:	Cardiomyopathy, Familial Idiopathic

Cardiomyopathy, Familial Idiopathic

0.400

Biomarker

CTD_human

In patients with DCM, TTNtv throughout titin were significantly associated with DCM.

27869827

2017

Entrez Id:	7273
Gene Symbol:	TTN

TTN

CUI:	C1449563
Disease:	Cardiomyopathy, Familial Idiopathic

Cardiomyopathy, Familial Idiopathic

0.400

Biomarker

CTD_human

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.

17444505

2007

Entrez Id:	7273
Gene Symbol:	TTN

TTN

CUI:	C1449563
Disease:	Cardiomyopathy, Familial Idiopathic

Cardiomyopathy, Familial Idiopathic

0.400

Biomarker

CTD_human

These observations suggest that titin mutations may cause DCM in a subset of the patients.

11846417

2002