DisGeNET - a database of gene-disease associations

Cardiomyopathy, Dilated, C0007193

Gene: TTN-AS1 ×

Source: CLINVAR ×

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

0.100

GeneticVariation

group

CLINVAR

Neuromuscular transmission defects in myopathies: Rare but worth searching for.

30536954

2019

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

0.100

CausalMutation

group

CLINVAR

Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.

26735901

2016

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

0.100

CausalMutation

group

CLINVAR

Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation.

26899768

2016

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

0.100

CausalMutation

group

CLINVAR

Atlas of the clinical genetics of human dilated cardiomyopathy.

25163546

2015

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

0.100

GeneticVariation

group

CLINVAR

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

25589632

2015

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

0.100

CausalMutation

group

CLINVAR

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

24503780

2014

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

0.100

GeneticVariation

group

CLINVAR

Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.

25448463

2014

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

0.100

GeneticVariation

group

CLINVAR

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

24503780

2014

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

0.100

GeneticVariation

group

CLINVAR

Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.

23418287

2013

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

0.100

GeneticVariation

group

CLINVAR

Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.

24119082

2013

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

0.100

CausalMutation

group

CLINVAR

Truncations of titin causing dilated cardiomyopathy.

22335739

2012

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

0.100

GeneticVariation

group

CLINVAR

Truncations of titin causing dilated cardiomyopathy.

22335739

2012

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

0.100

GeneticVariation

group

CLINVAR

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

18948003

2008

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

0.100

GeneticVariation

group

CLINVAR

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

17444505

2007

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

0.100

GeneticVariation

group

CLINVAR

Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy.

16733766

2006

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

0.100

GeneticVariation

group

CLINVAR

The kinase domain of titin controls muscle gene expression and protein turnover.

15802564

2005

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

0.100

GeneticVariation

group

CLINVAR

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.

12145747

2002