Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.100 GeneticVariation CLINVAR The kinase domain of titin controls muscle gene expression and protein turnover. 15802564

2005

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.100 GeneticVariation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.100 GeneticVariation CLINVAR Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. 12145747

2002

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.100 GeneticVariation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.100 GeneticVariation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.100 GeneticVariation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.100 GeneticVariation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.100 GeneticVariation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.100 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.100 GeneticVariation CLINVAR Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy. 24119082

2013

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.100 GeneticVariation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.100 GeneticVariation CLINVAR Neuromuscular transmission defects in myopathies: Rare but worth searching for. 30536954

2019

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.100 CausalMutation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.100 CausalMutation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.100 CausalMutation CLINVAR Atlas of the clinical genetics of human dilated cardiomyopathy. 25163546

2015

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.100 CausalMutation CLINVAR Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. 26735901

2016

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.100 CausalMutation CLINVAR Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. 26899768

2016