Gene: TTN ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.500 GeneticVariation group BEFREE No congenital heart defect has been reported, and childhood-onset cardiomyopathy has been documented in only two CM families with homozygous mutations of the TTN gene. 24105469 2014
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.500 GeneticVariation group BEFREE In this review article, we highlight the role of titin and impact of TTN mutations in the pathogenesis of muscular dystrophies and cardiomyopathies. 30959043 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.500 Biomarker group BEFREE The central aim to this work was to find out the possible role of dystrophin and titin along with the TNF-alpha in the pathogenesis of cardiomyopathy. 20373002 2010
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.500 GeneticVariation group BEFREE It will also give an outlook onto exciting technological developments, such as in the field of CRISPR, which may facilitate future research on titin variants and their contributions to cardiomyopathies. 31147888 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.500 Biomarker group BEFREE This study enhances insights in the molecular layout of the C-zone of titin, its relation to cMyBP-C, and its possible roles in cardiomyopathies. 31158359 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.500 CausalMutation group CLINVAR
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.500 GeneticVariation group CLINVAR
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
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.500 Biomarker group GENOMICS_ENGLAND