Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
Biomarker
|
disease |
MGD |
|
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction.
|
24691700 |
2015 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy.
|
10525521 |
1999 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy.
|
10525521 |
1999 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
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, Familial Hypertrophic, 2
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy.
|
9482583 |
1998 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A systematic approach to assessing the clinical significance of genetic variants.
|
24033266 |
2013 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Allosteric effects of cardiac troponin TNT1 mutations on actomyosin binding: a novel pathogenic mechanism for hypertrophic cardiomyopathy.
|
24480310 |
2014 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.
|
8205619 |
1994 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.
|
8205619 |
1994 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.
|
8205619 |
1994 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy.
|
12186860 |
2002 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy.
|
10617660 |
2000 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210.
|
23663841 |
2013 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Ca(2+) activation of myofilaments from transgenic mouse hearts expressing R92Q mutant cardiac troponin T.
|
11158969 |
2001 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy.
|
11773635 |
2002 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy.
|
10085122 |
1999 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology.
|
18651846 |
2008 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization.
|
14654368 |
2003 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathy.
|
10449439 |
1999 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Cardiomyopathy-causing deletion K210 in cardiac troponin T alters phosphorylation propensity of sarcomeric proteins.
|
20079745 |
2010 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Changes in the chemical and dynamic properties of cardiac troponin T cause discrete cardiomyopathies in transgenic mice.
|
16326803 |
2005 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.
|
24793961 |
2014 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Characterization of the two eIF4A-binding sites on human eIF4G-1.
|
11060291 |
2001 |