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 CausalMutation group CLINVAR Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. 26735901 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 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 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 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 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 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 MGD Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease. 19406126 2009
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 Biomarker group CTD_human Titin-truncating variants affect heart function in disease cohorts and the general population. 27869827 2017
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.900 Biomarker group CTD_human Titin mutations as the molecular basis for dilated cardiomyopathy. 11846417 2002
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