Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Atypical phenotypes in titinopathies explained by second titin mutations. 24395473

2014
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. 24105469

2014
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2. 23518707

2013
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Contribution of genetic factors to the pathogenesis of dilated cardiomyopathy: the cause of dilated cardiomyopathy: genetic or acquired? (genetic-side). 21617319

2011
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes. 21810661

2011
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Left ventricular systolic dysfunction and ischemic cardiomyopathy. 12669942

2003
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system. 11717165

2001
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. 10462489

1999
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Muscular dystrophy with separate clinical phenotypes in a large family. 1745277

1991
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR