Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7168
Gene Symbol: TPM1
TPM1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

Entrez Id: 7168
Gene Symbol: TPM1
TPM1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN Mutation-Specific Phenotypes in hiPSC-Derived Cardiomyocytes Carrying Either Myosin-Binding Protein C Or α-Tropomyosin Mutation for Hypertrophic Cardiomyopathy. 27057166

2016

Entrez Id: 7168
Gene Symbol: TPM1
TPM1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN Mechanistic heterogeneity in contractile properties of α-tropomyosin (TPM1) mutants associated with inherited cardiomyopathies. 25548289

2015

Entrez Id: 7168
Gene Symbol: TPM1
TPM1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN Perturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutations. 23508784

2013

Entrez Id: 7168
Gene Symbol: TPM1
TPM1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN Hypertrophic cardiomyopathy-causing Asp175asn and Glu180gly Tpm1 mutations shift tropomyosin strands further towards the open position during the ATPase cycle. 21376702

2011

Entrez Id: 7168
Gene Symbol: TPM1
TPM1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN Enhanced active cross-bridges during diastole: molecular pathogenesis of tropomyosin's HCM mutations. 21320446

2011

Entrez Id: 7168
Gene Symbol: TPM1
TPM1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN Parvalbumin corrects slowed relaxation in adult cardiac myocytes expressing hypertrophic cardiomyopathy-linked alpha-tropomyosin mutations. 15059934

2004

Entrez Id: 7168
Gene Symbol: TPM1
TPM1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN Variable clinical manifestation of a novel missense mutation in the alpha-tropomyosin (TPM1) gene in familial hypertrophic cardiomyopathy. 12651045

2003

Entrez Id: 7168
Gene Symbol: TPM1
TPM1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN L185R-TPM1 cosegregated with family members having clinical evidence of HC, including the proband as confirmed by molecular autopsy. 12423715

2002

Entrez Id: 7168
Gene Symbol: TPM1
TPM1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN Hypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis. 11136687

2001

Entrez Id: 7168
Gene Symbol: TPM1
TPM1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN A familial hypertrophic cardiomyopathy alpha-tropomyosin mutation causes severe cardiac hypertrophy and death in mice. 11603924

2001

Entrez Id: 7168
Gene Symbol: TPM1
TPM1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN Altered hemodynamics in transgenic mice harboring mutant tropomyosin linked to hypertrophic cardiomyopathy. 11045979

2000

Entrez Id: 7168
Gene Symbol: TPM1
TPM1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN The aim of the study was to screen 36 unrelated patients with hypertrophic cardiomyopathy (HCM; 16 familial and 20 sporadic cases) from a genetically homogeneous area in eastern Finland for variants in the cardiac beta-myosin heavy chain (beta-MHC) and alpha-tropomyosin (alpha-TM) genes. 9822100

1998

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: 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: 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: 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