Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.500 Biomarker group BEFREE Truncating Titin (TTN) Variants in Chemotherapy-Induced Cardiomyopathy. 28315399 2017
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.500 GeneticVariation group BEFREE TTN missense variants was commonly identified in ACM patients in this cohort, but hardly played a primary role in ACM as causative variants. 29750433 2018
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.500 Biomarker group BEFREE Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmias. 29377983 2018
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.500 GeneticVariation group BEFREE Mutations in the gene encoding the giant skeletal muscle protein titin are associated with a variety of muscle disorders, including recessive congenital myopathies ±cardiomyopathy, limb girdle muscular dystrophy (LGMD) and late onset dominant distal myopathy. 28716623 2017
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.500 Biomarker group BEFREE Finally, we consider the contemporary and potential future role for genetic stratification in cardiomyopathy and in the general population, evaluating titin variation as a predictor of outcome and treatment response for precision medicine. 29238064 2018
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.500 Biomarker group BEFREE Individuals of European ancestry with hiPSI TTNtv have an abnormal cardiac phenotype characterized by lower left ventricular ejection fraction, irrespective of the clinical manifestation of cardiomyopathy. 31216868 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.500 Biomarker group BEFREE The majority of cardiomyopathy causing candidate genes encode structural proteins among which titin probably is the most important one. 24531746 2014
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.500 Biomarker group BEFREE TTN, the gene encoding the sarcomere protein titin, has been insufficiently analyzed for cardiomyopathy mutations because of its enormous size. 29109008 2018
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.500 GeneticVariation group BEFREE Modern genetics raises an intriguing explanation for the unexpected phenotype and adds to the evolving role of TTN variants in cardiomyopathy. 30269836 2018
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.500 GeneticVariation group BEFREE Genetic mutations associated with cardiomyopathy play a key role in disease formation, especially the mutation of sarcomere encoding genes and ATP kinase genes, such as titin, lamin A/C, myosin heavy chain 7, and troponin T1. 30995779 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.500 Biomarker group BEFREE Connectin, also called titin, is the largest protein with a critical function as a molecular spring during contraction and relaxation of striated muscle; its mutation leads to severe myopathy and cardiomyopathy. 27725266 2017
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.500 Biomarker group BEFREE TTN, the gene encoding the sarcomere protein titin, has been insufficiently analyzed for cardiomyopathy mutations because of its enormous size. 22335739 2012
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.500 Biomarker group BEFREE The Giant Protein Titin's Role in Cardiomyopathy: Genetic, Transcriptional, and Post-translational Modifications of TTN and Their Contribution to Cardiac Disease. 31849696 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.500 CausalMutation group CLINVAR
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.500 GeneticVariation group BEFREE So far, only 127 mutations of Titin(TTN) have been reported in patients with different phenotypes such as isolated cardiomyopathies, purely skeletal muscle phenotypes or complex overlapping disorders of muscles. 27544385 2018
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.500 GeneticVariation group BEFREE Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy. 16465475 2005
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.500 GeneticVariation group BEFREE We also propose a potential mechanism for a known titin-N2B cardiomyopathy-causing mutation that involves this regulatory complex. 22778266 2012
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.500 GeneticVariation group BEFREE It furthermore highlights that rare titin missense variants, currently often ignored or left uninterpreted, should be considered to be relevant for cardiomyopathies and can be identified by the approach presented here. 27625337 2016
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.500 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
0.500 GeneticVariation group BEFREE We uncovered genomic regions of selective sweeps in the LBP and BPI genes (<i>Salmonella</i> infection) and the TTN and ITGB6 genes (cardiomyopathy), among several candidate genes. 31440273 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.500 Biomarker group BEFREE Enzyme-linked immunosorbent assays (ELISAs) have shown that urinary titin is a useful noninvasive biomarker for the diagnosis and screening of not only DMD, but also of neuromuscular diseases, for predicting the outcome of cardiomyopathy and for evaluating physical activities. 31122607 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.500 GeneticVariation group BEFREE Pathogenic mutations in the gene encoding the giant skeletal muscle protein titin (TTN) are associated with several muscle disorders, including cardiomyopathy, recessive congenital myopathies and limb-girdle muscular dystrophy (LGMD) type10. 31664938 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.500 GeneticVariation group CLINVAR
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.500 GeneticVariation group BEFREE This review summarizes recent insight into the mechanisms behind how titin gene mutations cause hereditary cardiomyopathy and how titin protein is mechanically active in skeletal and cardiac myocytes. 29131758 2018
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.500 Biomarker group LHGDN We also reported several other mutations in the N2-B region of titin/connectin found in hypertrophic cardiomyopathy and dilated cardiomyopathy. 16465475 2005