Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		1.000 Biomarker GENOMICS_ENGLAND Titin-truncating variants affect heart function in disease cohorts and the general population. 27869827

2017
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		1.000 Biomarker GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049

2010
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		1.000 GeneticVariation UNIPROT Tibial muscular dystrophy in a Belgian family. 12891679

2003
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		1.000 GeneticVariation UNIPROT Immunohistochemical analysis using two exon-specific antibodies directed to the M-line region of titin demonstrated the specific loss of carboxy-terminal titin epitopes in the TMD muscle samples that we studied, thus implicating a functional defect of the M-line titin in the genesis of the TMD disease phenotype. 12145747

2002
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		1.000 Biomarker GENOMICS_ENGLAND Immunohistochemical analysis using two exon-specific antibodies directed to the M-line region of titin demonstrated the specific loss of carboxy-terminal titin epitopes in the TMD muscle samples that we studied, thus implicating a functional defect of the M-line titin in the genesis of the TMD disease phenotype. 12145747

2002
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		1.000 Biomarker CTD_human Immunohistochemical analysis using two exon-specific antibodies directed to the M-line region of titin demonstrated the specific loss of carboxy-terminal titin epitopes in the TMD muscle samples that we studied, thus implicating a functional defect of the M-line titin in the genesis of the TMD disease phenotype. 12145747

2002
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 Biomarker GENOMICS_ENGLAND Association of Titin-Truncating Genetic Variants With Life-threatening Cardiac Arrhythmias in Patients With Dilated Cardiomyopathy and Implanted Defibrillators. 31251381

2019
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.900 Biomarker CTD_human Titin-truncating variants affect heart function in disease cohorts and the general population. 27869827

2017
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.900 Biomarker GENOMICS_ENGLAND A 'second truncation' in TTN causes early onset recessive muscular dystrophy. 28716623

2017
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 Biomarker GENOMICS_ENGLAND Titin-truncating variants affect heart function in disease cohorts and the general population. 27869827

2017
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 Biomarker GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049

2010
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.900 Biomarker CTD_human 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 UNIPROT Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy. 16465475

2005
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.900 Biomarker CTD_human Titin mutations as the molecular basis for dilated cardiomyopathy. 11846417

2002
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
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 GeneticVariation UNIPROT Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. 11788824

2002
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.900 Biomarker CTD_human

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
Hereditary Myopathy with Early Respiratory Failure 		0.800 Biomarker GENOMICS_ENGLAND A homozygous TTN gene variant associated with lethal congenital contracture syndrome. 29575618

2018
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.800 Biomarker GENOMICS_ENGLAND Titin-truncating variants affect heart function in disease cohorts and the general population. 27869827

2017
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.800 Biomarker GENOMICS_ENGLAND A 'second truncation' in TTN causes early onset recessive muscular dystrophy. 28716623

2017
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
Hereditary Myopathy with Early Respiratory Failure 		0.800 Biomarker GENOMICS_ENGLAND A 'second truncation' in TTN causes early onset recessive muscular dystrophy. 28716623

2017
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
Hereditary Myopathy with Early Respiratory Failure 		0.800 Biomarker GENOMICS_ENGLAND Titin-truncating variants affect heart function in disease cohorts and the general population. 27869827

2017
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.800 Biomarker GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049

2010
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
Hereditary Myopathy with Early Respiratory Failure 		0.800 Biomarker GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049

2010