DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Cardiomyopathy, Hypertrophic, Familial ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	4607
Gene Symbol:	MYBPC3

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults.

28087566

2017

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

The clinical features, outcomes and genetic characteristics of hypertrophic cardiomyopathy patients with severe right ventricular hypertrophy.

28323875

2017

Entrez Id:	4607
Gene Symbol:	MYBPC3

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

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

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

GeneticVariation

CLINVAR

Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.

28356264

2017

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

GeneticVariation

CLINVAR

Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications.

28408708

2017

Entrez Id:	4607
Gene Symbol:	MYBPC3

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy.

28797094

2017

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.

28356264

2017

Entrez Id:	4607
Gene Symbol:	MYBPC3

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

27532257

2017

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

GeneticVariation

CLINVAR

Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage.

29121657

2017

Entrez Id:	4607
Gene Symbol:	MYBPC3

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

GeneticVariation

CLINVAR

Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.

28790153

2017

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

A Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction.

28855170

2017

Entrez Id:	4607
Gene Symbol:	MYBPC3

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage.

29121657

2017

Entrez Id:	4607
Gene Symbol:	MYBPC3

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

GeneticVariation

CLINVAR

Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing.

28679633

2017

Entrez Id:	4607
Gene Symbol:	MYBPC3

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Echocardiographic characterization of hypertrophic cardiomyopathy in Chinese patients with myosin-binding protein C3 mutations.

28450932

2017

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Familial hypertrophic cardiomyopathy caused by a de novo Gly716Arg mutation of the β-myosin heavy chain.

27161882

2017

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

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:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy.

28193612

2017

Entrez Id:	7168
Gene Symbol:	TPM1

TPM1

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Clinically Divergent Mutation Effects on the Structure and Function of the Human Cardiac Tropomyosin Overlap.

28603979

2017

Entrez Id:	4607
Gene Symbol:	MYBPC3

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications.

28408708

2017

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

GeneticVariation

CLINVAR

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

28771489

2017

Entrez Id:	4607
Gene Symbol:	MYBPC3

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

GeneticVariation

CLINVAR

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

28771489

2017

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

GeneticVariation

CLINVAR

Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.

28356264

2017

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease.

28611029

2017

Entrez Id:	7168
Gene Symbol:	TPM1

TPM1

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

The structural basis of alpha-tropomyosin linked (Asp230Asn) familial dilated cardiomyopathy.

28600229

2017

Entrez Id:	7168
Gene Symbol:	TPM1

TPM1

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Multiplexed Reference Materials as Controls for Diagnostic Next-Generation Sequencing: A Pilot Investigating Applications for Hypertrophic Cardiomyopathy.

27639548

2016