DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Cardiomyopathy, Hypertrophic, Familial ×

The Variant filter does not apply in GDA tabs

Results per page

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:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

GeneticVariation

CLINVAR

Good Intentions Gone Bad.

31112422

2019

Entrez Id:	4607
Gene Symbol:	MYBPC3

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.

31568572

2019

Entrez Id:	4607
Gene Symbol:	MYBPC3

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy.

31333075

2019

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy.

31333075

2019

Entrez Id:	4607
Gene Symbol:	MYBPC3

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy.

31730716

2019

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.

31568572

2019

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup.

28640247

2018

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

GeneticVariation

CLINVAR

Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).

30297972

2018

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

GeneticVariation

CLINVAR

Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy.

30022097

2018

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Novel Adult-Onset Systolic Cardiomyopathy Due to MYH7 E848G Mutation in Patient-Derived Induced Pluripotent Stem Cells.

30623132

2018

Entrez Id:	4607
Gene Symbol:	MYBPC3

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy.

28971120

2017

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

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:	7137
Gene Symbol:	TNNI3

TNNI3

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

Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data.

28138913

2017

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

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:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

GeneticVariation

CLINVAR

Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing.

28498465

2017

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy.

28615295

2017

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

GeneticVariation

CLINVAR

Prevalence and Clinical Implication of Double Mutations in Hypertrophic Cardiomyopathy: Revisiting the Gene-Dose Effect.

28420666

2017

Entrez Id:	7168
Gene Symbol:	TPM1

TPM1

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

Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy.

28615295

2017

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

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:	4607
Gene Symbol:	MYBPC3

MYBPC3

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:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

28606303

2017

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

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

Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans.

27841901

2017