Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7168
Gene Symbol: TPM1
TPM1
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation CLINVAR A study of tropomyosin's role in cardiac function and disease using thin-filament reconstituted myocardium. 23700264

2013

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation CLINVAR Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy. 23782526

2013

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation CLINVAR Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations. 18337725

2008

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation CLINVAR Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations. 12820698

2003

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation CLINVAR Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome. 22267749

2012

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation CLINVAR Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy. 27600940

2016

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation CLINVAR Genetics of hypertrophic cardiomyopathy in Norway. 24111713

2014

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation CLINVAR [Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy]. 17125710

2006

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation CLINVAR Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy. 22112859

2012

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation CLINVAR Good Intentions Gone Bad. 31112422

2019

Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011

Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation CLINVAR Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. 10806205

2000

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation CLINVAR Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy. 20031602

2009

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation CLINVAR The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans. 20542340

2010

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation CLINVAR Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy. 21302287

2011

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation CLINVAR Gene-specific increase in the energetic cost of contraction in hypertrophic cardiomyopathy caused by thick filament mutations. 24835277

2014

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation CLINVAR Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy. 20433692

2010

Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation CLINVAR High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians. 22876777

2012

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation CLINVAR Penetrance of hypertrophic cardiomyopathy in children and adolescents: a 12-year follow-up study of clinical screening and predictive genetic testing. 23197161

2013

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation CLINVAR Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. 11106718

2000

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation CLINVAR The in vitro motility activity of beta-cardiac myosin depends on the nature of the beta-myosin heavy chain gene mutation in hypertrophic cardiomyopathy. 9172070

1997

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation CLINVAR Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy. 20800588

2010

Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation CLINVAR

Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011