Source: CLINVAR ×
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 CLINVAR Neuromuscular transmission defects in myopathies: Rare but worth searching for. 30536954 2019
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 CausalMutation group CLINVAR Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. 26735901 2016
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 CausalMutation group CLINVAR Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. 26899768 2016
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 CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632 2015
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 CausalMutation group CLINVAR Atlas of the clinical genetics of human dilated cardiomyopathy. 25163546 2015
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 CausalMutation group CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group CLINVAR Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy. 24119082 2013
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group CLINVAR 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 Truncations of titin causing dilated cardiomyopathy. 22335739 2012
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 CausalMutation group CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739 2012
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group CLINVAR Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). 18948003 2008
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 CLINVAR Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy. 16733766 2006
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 CLINVAR Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. 12145747 2002
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group CLINVAR Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. 11788824 2002
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.900 GeneticVariation group CLINVAR Familial dilated cardiomyopathy locus maps to chromosome 2q31. 10051295 1999
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 GeneticVariation group CLINVAR Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy. 24815523 2014
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 CausalMutation group CLINVAR Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block. 22899775 2012
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 CausalMutation group CLINVAR Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q. 22710484 2012
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 CausalMutation group CLINVAR R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy. 22999724 2012