×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
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
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
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
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
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
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
Cardiomyopathy, Dilated
0.630
GeneticVariation
CLINVAR
Mutations in sarcomere protein genes in left ventricular noncompaction.
18506004
2008
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Dilated
0.630
GeneticVariation
CLINVAR
Genetic testing for dilated cardiomyopathy in clinical practice.
22464770
2012
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
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
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
Cardiomyopathy, Dilated
0.630
GeneticVariation
CLINVAR
RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy.
31333075
2019
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
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
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
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
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
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
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
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
Inflammatory changes in infantile-onset LMNA-associated myopathy.
21632249
2011
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
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
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
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
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
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
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
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling.
23427149
2013