Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 845
Gene Symbol: CASQ2
CASQ2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN

Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.310 Biomarker CLINGEN

Entrez Id: 7125
Gene Symbol: TNNC2
TNNC2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.300 Biomarker CLINGEN

Entrez Id: 7112
Gene Symbol: TMPO
TMPO
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.300 Biomarker CLINGEN

Entrez Id: 783
Gene Symbol: CACNB2
CACNB2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.300 Biomarker CLINGEN

Entrez Id: 4624
Gene Symbol: MYH6
MYH6
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.660 Biomarker CLINGEN Myosin types in the human heart. An immunofluorescence study of normal and hypertrophied atrial and ventricular myocardium. 6234108

1984

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 Biomarker CLINGEN A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene. 2144212

1990

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 Biomarker CLINGEN 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 Biomarker CLINGEN Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes. 1944483

1991

Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 Biomarker CLINGEN Troponin T isoform expression in humans. A comparison among normal and failing adult heart, fetal heart, and adult and fetal skeletal muscle. 1934353

1991

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 Biomarker CLINGEN Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. 1552912

1992

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 Biomarker CLINGEN Expression of a missense mutation in the messenger RNA for beta-myosin heavy chain in myocardial tissue in hypertrophic cardiomyopathy. 1634614

1992

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 Biomarker CLINGEN Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. 1430197

1992

Entrez Id: 7168
Gene Symbol: TPM1
TPM1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2. 8327508

1993

Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.480 Biomarker CLINGEN Novel monoclonal antibodies specific for human cardiac myosin light-chain 1: useful tools for analysis of normal and pathological hearts. 8417110

1993

Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 Biomarker CLINGEN Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 8205619

1994

Entrez Id: 7168
Gene Symbol: TPM1
TPM1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 8205619

1994

Entrez Id: 7071
Gene Symbol: KLF10
KLF10
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.510 Biomarker CLINGEN Identification of a novel TGF-beta-regulated gene encoding a putative zinc finger protein in human osteoblasts. 8532536

1995

Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. 7657794

1995

Entrez Id: 7168
Gene Symbol: TPM1
TPM1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN Novel missense mutation in alpha-tropomyosin gene found in Japanese patients with hypertrophic cardiomyopathy. 8523464

1995

Entrez Id: 7168
Gene Symbol: TPM1
TPM1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN De novo mutations in the alpha-tropomyosin gene can result in hypertrophic cardiomyopathy that may appear to be sporadic but in subsequent generations gives rise to familial disease. 7729014

1995

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 Biomarker CLINGEN A mouse model of familial hypertrophic cardiomyopathy. 8614836

1996

Entrez Id: 7168
Gene Symbol: TPM1
TPM1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN Clinical implications of hypertrophic cardiomyopathy associated with mutations in the alpha-tropomyosin gene. 8774330

1996

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN A molecular map of the interactions between titin and myosin-binding protein C. Implications for sarcomeric assembly in familial hypertrophic cardiomyopathy. 8631348

1996

Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.480 Biomarker CLINGEN Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. 8673105

1996