Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.630 GeneticVariation CLINVAR Multiple Species Comparison of Cardiac Troponin T and Dystrophin: Unravelling the DNA behind Dilated Cardiomyopathy. 29367539

2017

Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.630 GeneticVariation CLINVAR Dilated cardiomyopathy caused by a novel TNNT2 mutation-added value of genetic testing in the correct identification of affected subjects. 19324435

2010

Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.630 GeneticVariation CLINVAR A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM). 24992688

2014

Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.630 GeneticVariation CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533

2012

Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.630 GeneticVariation CLINVAR Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments. 17932326

2007

Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.630 GeneticVariation CLINVAR Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy. 20031601

2009

Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.630 GeneticVariation CLINVAR Mutations in sarcomere protein genes in left ventricular noncompaction. 18506004

2008

Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.630 GeneticVariation CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770

2012

Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.630 GeneticVariation CLINVAR Novel troponin T mutation in familial dilated cardiomyopathy with gender-dependant severity. 15464434

2005

Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.630 GeneticVariation CLINVAR Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3. 31568572

2019

Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.630 GeneticVariation CLINVAR RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy. 31333075

2019

Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.630 GeneticVariation CLINVAR Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. 15542288

2004

Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.630 GeneticVariation CLINVAR Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. 19412328

2008

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 GeneticVariation CLINVAR Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. 28679633

2017

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 GeneticVariation CLINVAR Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories. 24915601

2014

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 GeneticVariation CLINVAR The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope. 29943882

2018

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 GeneticVariation CLINVAR Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene. 10908904

2000

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 GeneticVariation CLINVAR Inflammatory changes in infantile-onset LMNA-associated myopathy. 21632249

2011

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 GeneticVariation CLINVAR Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. 20848652

2011

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 GeneticVariation CLINVAR Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. 23183350

2013

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 GeneticVariation CLINVAR Dilated cardiomyopathies caused by LMNA gene defects are highly penetrant, adult onset, malignant diseases characterized by a high rate of heart failure and life-threatening arrhythmias, predicted by New York Heart Association functional class, competitive sport activity, and type of mutation. 18926329

2008

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 GeneticVariation CLINVAR A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy. 18816602

2008

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 GeneticVariation CLINVAR Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A/C Mutation Carriers. 27884249

2016

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 GeneticVariation CLINVAR Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. 11503164

2001

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 GeneticVariation CLINVAR Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling. 23427149

2013