Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 CausalMutation group CLINVAR Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. 26735901 2016
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 AlteredExpression group BEFREE A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism. 27496873 2016
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group BEFREE Relevance of truncating titin mutations in dilated cardiomyopathy. 26777568 2016
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group BEFREE Building on our recent discovery of a conserved internal promoter within the Titin gene, we sought to develop an integrative statistical model to explain the observed pattern of Titin truncation variants in patients with dilated cardiomyopathy and population controls. 27625338 2016
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 CausalMutation group CLINVAR Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. 26899768 2016
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 Biomarker group BEFREE Truncating mutations in the giant sarcomeric protein Titin result in dilated cardiomyopathy and skeletal myopathy. 26473617 2015
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group CLINVAR HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy. 26315439 2015
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 Biomarker group BEFREE The recent discovery of heterozygous human mutations that truncate full-length titin (TTN, an abundant structural, sensory, and signaling filament in muscle) as a common cause of end-stage dilated cardiomyopathy (DCM) promises new prospects for improving heart failure management. 25589632 2015
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632 2015
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 Biomarker group BEFREE Role of Titin Missense Variants in Dilated Cardiomyopathy. 26567375 2015
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 CausalMutation group CLINVAR Atlas of the clinical genetics of human dilated cardiomyopathy. 25163546 2015
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group BEFREE Dilated cardiomyopathy is often triggered by mutations that disrupt the giant protein titin. 25651172 2015
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 Biomarker group BEFREE Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy. 25759365 2015
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group BEFREE Truncating titin (TTN) mutations, especially in A-band region, represent the most common cause of dilated cardiomyopathy (DCM). 26701604 2015
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group BEFREE HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy. 26315439 2015
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group BEFREE Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy. 24558114 2014
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group CLINVAR Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians. 25448463 2014
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group BEFREE Recently, heterozygous TTN truncating mutations have also been reported as a major cause of dominant dilated cardiomyopathy. 24105469 2014
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group BEFREE The recent discovery of titin mutations being a major cause of dilated cardiomyopathy (DCM) also underpins the importance of mechanosensation and mechanotransduction in the pathogenesis of heart failure. 24531746 2014
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 CausalMutation group CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group BEFREE Recently, missense mutations in titin-associated proteins have been linked to the pathogenesis of dilated cardiomyopathy (DCM). 22892539 2013
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group BEFREE Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy. 23463027 2013
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group BEFREE 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: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group CLINVAR Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy. 24119082 2013