×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene.
8254035
1993
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
Diastolic dysfunction without left ventricular hypertrophy is an early finding in children with hypertrophic cardiomyopathy-causing mutations in the beta-myosin heavy chain, alpha-tropomyosin, and myosin-binding protein C genes.
16504640
2006
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
Prognostic significance of beta-myosin heavy chain mutations is reflective of their hypertrophic expressivity in patients with hypertrophic cardiomyopathy.
9154300
1997
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.
27247418
2016
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
A novel mutation of the beta myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.
19645038
2009
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy.
8514894
1993
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
GeneticVariation
CLINVAR
Hypertrophic cardiomyopathy-related beta-myosin mutations cause highly variable calcium sensitivity with functional imbalances among individual muscle cells.
15550524
2005
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
Biomarker
CTD_human
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
GeneticVariation
CLINVAR
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
16199542
2005
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
GeneticVariation
CLINVAR
Familial hypertrophic cardiomyopathy owing to double heterozygosity for a 403Arg--> Trp mutation in exon 13 of the MYH7 gene and a novel mutation, 453Arg--> His, in exon 14 of the MYH7 gene: A case report.
20428263
2001
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
GeneticVariation
CLINVAR
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
25611685
2015
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
[Analysis of MYH7, MYBPC3 and TNNT2 gene mutations in 10 Chinese pedigrees with familial hypertrophic cardiomyopathy and the correlation between genotype and phenotype].
16630449
2006
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
Malignant mutations in hypertrophic cardiomyopathy: fact or fancy?
16335287
2005
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy.
8268932
1993
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
Genetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary phenotypes.
15000344
2004
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
R403Q and L908V mutant beta-cardiac myosin from patients with familial hypertrophic cardiomyopathy exhibit enhanced mechanical performance at the single molecule level.
11227787
2000
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
β-Myosin heavy chain variant Val606Met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates HCM phenotypes in mice carrying other HCM mutations.
24829265
2014
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
A low prevalence of MYH7/MYBPC3 mutations among familial hypertrophic cardiomyopathy patients in India.
21959974
2012
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy.
9826622
1998
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
GeneticVariation
UNIPROT
Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations.
12566107
2003
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
GeneticVariation
CLINVAR
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.
24510615
2014
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
Temporal repolarization lability in hypertrophic cardiomyopathy caused by beta-myosin heavy-chain gene mutations.
10725281
2000
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation.
1638703
1992
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy.
8533830
1995
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
GeneticVariation
CLINVAR
Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy.
23690394
2013