×
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
UNIPROT
"A novel missense mutation (R712L) adjacent to the ""active thiol"" region of the cardiac beta-myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family."
10679957
2000
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
GeneticVariation
UNIPROT
"Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."
12951062
2003
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
"Prevalence and severity of ""benign"" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy."
12473556
2002
×
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 DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.
18409188
2008
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
A fetus with hypertrophic cardiomyopathy, restrictive, and single-ventricle physiology, and a beta-myosin heavy chain mutation.
20394946
2010
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
GeneticVariation
UNIPROT
A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes.
9544842
1998
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes.
9544842
1998
×
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
GeneticVariation
CLINVAR
A malignant phenotype of hypertrophic cardiomyopathy caused by Arg719Gln cardiac beta-myosin heavy-chain mutation in a Chinese family.
11498078
2001
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
A malignant phenotype of hypertrophic cardiomyopathy caused by Arg719Gln cardiac beta-myosin heavy-chain mutation in a Chinese family.
11498078
2001
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
A missense mutation in the beta-myosin heavy chain gene in a Japanese patient with hypertrophic cardiomyopathy.
8788376
1995
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
GeneticVariation
UNIPROT
A missense mutation of cardiac beta-myosin heavy chain gene linked to familial hypertrophic cardiomyopathy in affected Japanese families.
8343162
1993
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.
1975517
1990
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
GeneticVariation
UNIPROT
A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.
1975517
1990
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
A mouse model of familial hypertrophic cardiomyopathy.
8614836
1996
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
A mutation in the beta-myosin rod associated with hypertrophic cardiomyopathy has an unexpected molecular phenotype.
19913502
2010
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy.
7796500
1995
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy.
24888384
2014
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy.
7848441
1994
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
GeneticVariation
UNIPROT
A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy.
7848441
1994
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
GeneticVariation
UNIPROT
A novel missense mutation, Leu390Val, in the cardiac beta-myosin heavy chain associated with pronounced septal hypertrophy in two families with hypertrophic cardiomyopathy.
11214007
2000
×
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
A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardiomyopathy in several members of an Indian family.
17703256
2007