Gene: TTN ×
Source: BEFREE ×
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 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 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 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 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 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 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 BEFREE The leading cause of genetic dilated cardiomyopathy (DCM) is due to mutations in the TTN gene, impacting approximately 15-20% of familial and 18% of sporadic DCM cases. 30998980 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group BEFREE Clinical exome sequencing revealed I536T-RBM20 variant, which alters RNA splicing of TTN and is causative for dilated cardiomyopathy. 31419596 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group BEFREE Truncating variants in TTN (TTNtv), coding for the largest structural protein in the sarcomere, contribute to the largest portion of familial and ambulatory dilated cardiomyopathy (DCM). 31705051 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 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 Biomarker group BEFREE Usefulness of Urinary N-Terminal Fragment of Titin to Predict Mortality in Dilated Cardiomyopathy. 29523227 2018
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group BEFREE Truncating mutations in the sarcomere protein titin cause dilated cardiomyopathy due to sarcomere insufficiency. 29316444 2018
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 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 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 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 Titin-truncating variants (TTNtv) commonly cause dilated cardiomyopathy (DCM). 27869827 2017
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group BEFREE Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy. 27813223 2017
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group BEFREE Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes. 29093449 2017
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 Biomarker group BEFREE Truncating mutations in the giant sarcomeric protein Titin result in dilated cardiomyopathy and skeletal myopathy. 26473617 2015