DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Cardiomyopathy, Hypertrophic, Familial ×

Variant: rs397516082 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs397516082

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

CausalMutation

CLINVAR

RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy.

31333075

2019

dbSNP:

rs397516082

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

CausalMutation

CLINVAR

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

31568572

2019

dbSNP:

rs397516082

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

CausalMutation

CLINVAR

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

27532257

2017

dbSNP:

rs397516082

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

CausalMutation

CLINVAR

Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation.

25078086

2014

dbSNP:

rs397516082

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

CausalMutation

CLINVAR

Myocardial structural alteration and systolic dysfunction in preclinical hypertrophic cardiomyopathy mutation carriers.

22574137

2012

dbSNP:

rs397516082

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

CausalMutation

CLINVAR

Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency.

19574547

2009

dbSNP:

rs397516082

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

CausalMutation

CLINVAR

Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.

9562578

1998