Source: CLINVAR

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: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		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: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		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: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation 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: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation CLINVAR Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. 26735901

2016
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation CLINVAR Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. 26899768

2016
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 GeneticVariation CLINVAR Atypical phenotypes in titinopathies explained by second titin mutations. 24395473

2014
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation 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: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation CLINVAR The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy. 29057560

2018
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation CLINVAR Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. 24105469

2014
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation CLINVAR A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure. 24444549

2014
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation 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: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 GeneticVariation CLINVAR Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders. 27353043

2016
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation CLINVAR Biophysical characterization of naturally occurring titin M10 mutations. 25739468

2015
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation CLINVAR Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy. 28416588

2017