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 GeneticVariation group BEFREE Truncation mutations of TTN have been identified as the most frequent genetic cause of dilated cardiomyopathy. 30959043 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group BEFREE In 2002, three reports described for the first time mutations in the sarcomeric protein titin associated with dilated cardiomyopathy in humans. 12114104 2002
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group BEFREE Heart failure was induced in a mouse model that imitates a human titin truncation mutation we found in a patient with dilated cardiomyopathy (DCM). 28353642 2017
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group CLINVAR Severe DCM phenotype of patient harboring RBM20 mutation S635A can be modeled by patient-specific induced pluripotent stem cell-derived cardiomyocytes. 28941705 2017
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group BEFREE Low mutation rate in the TTN gene in paediatric patients with dilated cardiomyopathy - a pilot study. 31712709 2019
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 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 The kinase domain of titin controls muscle gene expression and protein turnover. 15802564 2005
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group BEFREE Major genomic determinants of dilated cardiomyopathy (DCM) are titin truncating mutations and lamin A/C mutations. 30527532 2019
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 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 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 Improved understanding of dilated cardiomyopathy (DCM) due to titin truncation (TTNtv) may help guide patient stratification. 29073955 2017
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 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 C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. 17444505 2007
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 GeneticVariation group BEFREE Titin-truncating variants (TTNtv) have been recognized as the most prevalent genetic cause of dilated cardiomyopathy. 30851055 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group CLINVAR Neuromuscular transmission defects in myopathies: Rare but worth searching for. 30536954 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group BEFREE - Titin (TTN) truncation variants are the most frequent cause of dilated cardiomyopathy, one of the main causes of heart failure and heart transplant. 31849696 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group BEFREE Titin mutations as the molecular basis for dilated cardiomyopathy. 11846417 2002
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739 2012
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group BEFREE Truncating variants of TTN (TTNtv) especially in the A-band region account for 20% of dilated cardiomyopathy (DCM) cases. 30858397 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group CLINVAR Familial dilated cardiomyopathy locus maps to chromosome 2q31. 10051295 1999
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group BEFREE Relevance of truncating titin mutations in dilated cardiomyopathy. 26777568 2016