Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 CausalMutation CLINVAR Atypical phenotypes in titinopathies explained by second titin mutations. 24395473

2014
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 CausalMutation CLINVAR Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. 23486992

2014
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 CausalMutation CLINVAR A rising titan: TTN review and mutation update. 24980681

2014
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 CausalMutation CLINVAR A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure. 24444549

2014
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 GeneticVariation CLINVAR MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples. 25214167

2014
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 CausalMutation CLINVAR Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain. 24636144

2014
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 GeneticVariation CLINVAR Atypical phenotypes in titinopathies explained by second titin mutations. 24395473

2014
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 CausalMutation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 CausalMutation CLINVAR Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy. 24119082

2013
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 CausalMutation 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
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 CausalMutation CLINVAR Next generation sequencing for molecular diagnosis of neuromuscular diseases. 22526018

2012
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 Biomarker GENOMICS_ENGLAND Truncations of titin causing dilated cardiomyopathy. 22335739

2012
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 CausalMutation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 Biomarker GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049

2010
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 Biomarker 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
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 CausalMutation CLINVAR Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). 18948003

2008
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 GeneticVariation CLINVAR Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). 18948003

2008
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 CausalMutation CLINVAR C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. 17444505

2007
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 GeneticVariation CLINVAR C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. 17444505

2007
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 CausalMutation CLINVAR Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. 15728284

2005
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 GeneticVariation UNIPROT Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy. 16465475

2005
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 GeneticVariation UNIPROT Titin mutations as the molecular basis for dilated cardiomyopathy. 11846417

2002