|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Development of an osteogenic bone-marrow preparation.
|
2732257 |
1989 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
Biomarker
|
disease |
BEFREE |
The gene coding for cardiac MyBP-C has been assigned to the chromosomal location 11p11.2 in humans, and is therefore in a region of physical linkage to subsets of familial hypertrophic cardiomyopathy (FHC).
|
7744002 |
1995 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy.
|
7493026 |
1995 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy.
|
7493025 |
1995 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The gene encoding cardiac MyBP-C (MYBPC3) in humans is located on chromosome 11p11.2, and mutations have been identified in this gene in unrelated families with familial hypertrophic cardiomyopathy (FHC).
|
9048664 |
1997 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
Biomarker
|
disease |
CTD_human |
Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.
|
9241277 |
1997 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.
|
9241277 |
1997 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy.
|
9048664 |
1997 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.
|
9562578 |
1998 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Familial hypertrophic cardiomyopathy: from mutations to functional defects.
|
9742053 |
1998 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The gene involved in familial hypertrophic cardiomyopathy on chromosome 11 was recently identified as the cardiac myosin binding protein-C (MyBP-C) gene.
|
9503187 |
1998 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene.
|
9631872 |
1998 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Little information is available on phenotype-genotype correlations in familial hypertrophic cardiomyopathy that are related to the cardiac myosin binding protein C (MYBPC3) gene.
|
9631872 |
1998 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes.
|
10610770 |
1999 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes.
|
10610770 |
1999 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy.
|
10424815 |
1999 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance.
|
10736283 |
2000 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations.
|
11499718 |
2001 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.
|
11499719 |
2001 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
Biomarker
|
disease |
CTD_human |
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.
|
11815426 |
2002 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Functional and spectroscopic studies of a familial hypertrophic cardiomyopathy mutation in Motif X of cardiac myosin binding protein-C.
|
12202917 |
2002 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland.
|
12110947 |
2002 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.
|
11815426 |
2002 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy.
|
12788380 |
2003 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients.
|
12628722 |
2003 |