Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 CausalMutation CLINVAR Atlas of the clinical genetics of human dilated cardiomyopathy. 25163546

2016

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 CausalMutation CLINVAR Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. 26899768

2016

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 CausalMutation CLINVAR Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. 26735901

2016

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 GeneticVariation CLINVAR Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians. 25448463

2015

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 GeneticVariation CLINVAR Up to 37% of dilated cardiomyopathy cases carry a clinically relevant variant in one of 20 genes, titin (TTN) being the largest contributor (up to 14%). 24503780

2015

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 CausalMutation CLINVAR Up to 37% of dilated cardiomyopathy cases carry a clinically relevant variant in one of 20 genes, titin (TTN) being the largest contributor (up to 14%). 24503780

2015

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 GeneticVariation CLINVAR The recent discovery of heterozygous human mutations that truncate full-length titin (TTN, an abundant structural, sensory, and signaling filament in muscle) as a common cause of end-stage dilated cardiomyopathy (DCM) promises new prospects for improving heart failure management. 25589632

2015

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 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: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 CausalMutation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 GeneticVariation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 CausalMutation CLINVAR Among subjects studied by means of next-generation sequencing, the frequency of TTN mutations was significantly higher among subjects with dilated cardiomyopathy (54 of 203 [27%]) than among subjects with hypertrophic cardiomyopathy (3 of 231 [1%], P=3×10(-16)) or controls (7 of 249 [3%], P=9×10(-14)). 22335739

2012

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 GeneticVariation CLINVAR Incorporation of sequencing approaches that detect TTN truncations into genetic testing for dilated cardiomyopathy should substantially increase test sensitivity, thereby allowing earlier diagnosis and therapeutic intervention for many patients with dilated cardiomyopathy. 22335739

2012

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 CausalMutation CLINVAR TTN mutations cosegregated with dilated cardiomyopathy in families (combined lod score, 11.1) with high (>95%) observed penetrance after the age of 40 years. 22335739

2012

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 CausalMutation CLINVAR Defining the functional effects of TTN truncating mutations should improve our understanding of the pathophysiology of dilated cardiomyopathy. 22335739

2012

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 CausalMutation CLINVAR TTN truncating mutations are a common cause of dilated cardiomyopathy, occurring in approximately 25% of familial cases of idiopathic dilated cardiomyopathy and in 18% of sporadic cases. 22335739

2012

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 GeneticVariation CLINVAR Defining the functional effects of TTN truncating mutations should improve our understanding of the pathophysiology of dilated cardiomyopathy. 22335739

2012

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 CausalMutation CLINVAR Mutations associated with dilated cardiomyopathy were overrepresented in the titin A-band but were absent from the Z-disk and M-band regions of titin (P≤0.01 for all comparisons). 22335739

2012

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 GeneticVariation CLINVAR TTN mutations cosegregated with dilated cardiomyopathy in families (combined lod score, 11.1) with high (>95%) observed penetrance after the age of 40 years. 22335739

2012

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 CausalMutation CLINVAR Incorporation of sequencing approaches that detect TTN truncations into genetic testing for dilated cardiomyopathy should substantially increase test sensitivity, thereby allowing earlier diagnosis and therapeutic intervention for many patients with dilated cardiomyopathy. 22335739

2012

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 GeneticVariation CLINVAR Mutations associated with dilated cardiomyopathy were overrepresented in the titin A-band but were absent from the Z-disk and M-band regions of titin (P≤0.01 for all comparisons). 22335739

2012

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 GeneticVariation CLINVAR We analyzed TTN in 312 subjects with dilated cardiomyopathy, 231 subjects with hypertrophic cardiomyopathy, and 249 controls by using next-generation or dideoxy sequencing. 22335739

2012

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 CausalMutation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 GeneticVariation CLINVAR Among subjects studied by means of next-generation sequencing, the frequency of TTN mutations was significantly higher among subjects with dilated cardiomyopathy (54 of 203 [27%]) than among subjects with hypertrophic cardiomyopathy (3 of 231 [1%], P=3×10(-16)) or controls (7 of 249 [3%], P=9×10(-14)). 22335739

2012

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 GeneticVariation CLINVAR TTN truncating mutations are a common cause of dilated cardiomyopathy, occurring in approximately 25% of familial cases of idiopathic dilated cardiomyopathy and in 18% of sporadic cases. 22335739

2012