Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.900 Biomarker group BEFREE Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations. 28045975 2017
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 Biomarker group BEFREE TTN is closely related to dilated cardiomyopathy and is an important causative gene of familial dilated cardiomyopathy. 29109008 2018
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 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 Biomarker group BEFREE A-Band Titin Truncation in Zebrafish Causes Dilated Cardiomyopathy and Hemodynamic Stress Intolerance. 30354343 2018
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 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 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 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 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 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 Biomarker group BEFREE Mutations in genes for sarcomeric proteins such as titin/connectin are known to cause dilated cardiomyopathy (DCM). 16483541 2006
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 Biomarker group BEFREE Defects in titin, a large sarcomeric protein, may be responsible for disturbances of sarcomerogenesis in dilated cardiomyopathy. 8835872 1996
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.900 Biomarker group BEFREE Inhibition of miR-208b improves cardiac function in titin-based dilated cardiomyopathy. 28065693 2017
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.900 Biomarker group BEFREE In the complete knockout, remaining titin molecules experience increased strain, resulting in mechanically induced trophic signaling and eventually dilated cardiomyopathy. 30700140 2019
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 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 Biomarker group BEFREE We analyzed TTN in 312 subjects with dilated cardiomyopathy, 231 subjects with hypertrophic cardiomyopathy, and 249 controls by using next-generation or dideoxy sequencing. 22335739 2012
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