Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C2673677
Disease: Myopathy, Early-Onset, with Fatal Cardiomyopathy
Myopathy, Early-Onset, with Fatal Cardiomyopathy 		0.710 GermlineCausalMutation ORPHANET C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. 17444505

2007
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.640 GermlineCausalMutation ORPHANET Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. 11788824

2002
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1843687
Disease: ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) 		0.300 SusceptibilityMutation ORPHANET Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation. 30333491

2018
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0410204
Disease: Myopathy, Centronuclear, Autosomal Recessive
Myopathy, Centronuclear, Autosomal Recessive 		0.300 GermlineCausalMutation ORPHANET Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		0.300 GermlineCausalMutation ORPHANET Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1832931
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 		0.300 GermlineCausalMutation ORPHANET Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes. 21810661

2011