Cardiomyopathy, Dilated
|
0.630 |
Biomarker
|
group |
HPO |
|
|
|
Cardiomyopathy, Dilated
|
0.630 |
GeneticVariation
|
group |
BEFREE |
TNNT2 mutations can also lead to dilated cardiomyopathy, a leading cause of heart failure.
|
11967535 |
2002 |
Cardiomyopathy, Dilated
|
0.630 |
GeneticVariation
|
group |
CLINVAR |
A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM).
|
24992688 |
2014 |
Cardiomyopathy, Dilated
|
0.630 |
CausalMutation
|
group |
CLINVAR |
Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy.
|
11773635 |
2002 |
Cardiomyopathy, Dilated
|
0.630 |
CausalMutation
|
group |
CLINVAR |
Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation.
|
23074333 |
2012 |
Cardiomyopathy, Dilated
|
0.630 |
CausalMutation
|
group |
CLINVAR |
Cardiac troponin T lysine 210 deletion in a family with dilated cardiomyopathy.
|
11862580 |
2002 |
Cardiomyopathy, Dilated
|
0.630 |
CausalMutation
|
group |
CLINVAR |
Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization.
|
14654368 |
2003 |
Cardiomyopathy, Dilated
|
0.630 |
CausalMutation
|
group |
CLINVAR |
Cardiomyopathy-causing deletion K210 in cardiac troponin T alters phosphorylation propensity of sarcomeric proteins.
|
20079745 |
2010 |
Cardiomyopathy, Dilated
|
0.630 |
CausalMutation
|
group |
CLINVAR |
Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform.
|
15623536 |
2005 |
Cardiomyopathy, Dilated
|
0.630 |
CausalMutation
|
group |
CLINVAR |
Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy.
|
20031601 |
2009 |
Cardiomyopathy, Dilated
|
0.630 |
GeneticVariation
|
group |
CLINVAR |
Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy.
|
20031601 |
2009 |
Cardiomyopathy, Dilated
|
0.630 |
GeneticVariation
|
group |
CLINVAR |
Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.
|
19412328 |
2008 |
Cardiomyopathy, Dilated
|
0.630 |
CausalMutation
|
group |
CLINVAR |
Different functional properties of troponin T mutants that cause dilated cardiomyopathy.
|
12923187 |
2003 |
Cardiomyopathy, Dilated
|
0.630 |
GeneticVariation
|
group |
CLINVAR |
Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.
|
17932326 |
2007 |
Cardiomyopathy, Dilated
|
0.630 |
CausalMutation
|
group |
CLINVAR |
Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.
|
17932326 |
2007 |
Cardiomyopathy, Dilated
|
0.630 |
GeneticVariation
|
group |
CLINVAR |
Dilated cardiomyopathy caused by a novel TNNT2 mutation-added value of genetic testing in the correct identification of affected subjects.
|
19324435 |
2010 |
Cardiomyopathy, Dilated
|
0.630 |
CausalMutation
|
group |
CLINVAR |
Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype.
|
15923195 |
2005 |
Cardiomyopathy, Dilated
|
0.630 |
GeneticVariation
|
group |
CLINVAR |
Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype.
|
15923195 |
2005 |
Cardiomyopathy, Dilated
|
0.630 |
CausalMutation
|
group |
CLINVAR |
Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.
|
22675533 |
2012 |
Cardiomyopathy, Dilated
|
0.630 |
GeneticVariation
|
group |
CLINVAR |
Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.
|
22675533 |
2012 |
Cardiomyopathy, Dilated
|
0.630 |
CausalMutation
|
group |
CLINVAR |
Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin.
|
24367593 |
2013 |
Cardiomyopathy, Dilated
|
0.630 |
GeneticVariation
|
group |
CLINVAR |
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
|
27153395 |
2016 |
Cardiomyopathy, Dilated
|
0.630 |
CausalMutation
|
group |
CLINVAR |
Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity.
|
23539503 |
2013 |
Cardiomyopathy, Dilated
|
0.630 |
Biomarker
|
group |
MGD |
Gene-Targeted Mice with the Human Troponin T R141W Mutation Develop Dilated Cardiomyopathy with Calcium Desensitization.
|
27936050 |
2016 |
Cardiomyopathy, Dilated
|
0.630 |
GeneticVariation
|
group |
CLINVAR |
Genetic testing for dilated cardiomyopathy in clinical practice.
|
22464770 |
2012 |