CARDIOMYOPATHY, DILATED, 1D (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
CARDIOMYOPATHY, DILATED, 1D (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications.
|
28408708 |
2017 |
CARDIOMYOPATHY, DILATED, 1D (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications.
|
28408708 |
2017 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
CARDIOMYOPATHY, DILATED, 1D (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene.
|
26507537 |
2016 |
CARDIOMYOPATHY, DILATED, 1D (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.
|
26914223 |
2016 |
CARDIOMYOPATHY, DILATED, 1D (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation.
|
27036851 |
2016 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation.
|
27036851 |
2016 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.
|
26914223 |
2016 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene.
|
26507537 |
2016 |
CARDIOMYOPATHY, DILATED, 1D (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy.
|
26656454 |
2015 |
CARDIOMYOPATHY, DILATED, 1D (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction.
|
24691700 |
2015 |
CARDIOMYOPATHY, DILATED, 1D (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin.
|
26498512 |
2015 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin.
|
26498512 |
2015 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy.
|
26656454 |
2015 |
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, DILATED, 1D (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Hypertrophic cardiomyopathy: one gene … but many phenotypes.
|
24792744 |
2014 |
CARDIOMYOPATHY, DILATED, 1D (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.
|
25031304 |
2014 |
CARDIOMYOPATHY, DILATED, 1D (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.
|
24793961 |
2014 |
CARDIOMYOPATHY, DILATED, 1D (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
|
25524337 |
2014 |
CARDIOMYOPATHY, DILATED, 1D (disorder)
|
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, DILATED, 1D (disorder)
|
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 |
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 |