DisGeNET - a database of gene-disease associations

Familial Hypertrophic Cardiomyopathy Type 4, C1861862

Gene: MYBPC3 ×

Source: UNIPROT ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121909374

MYBPC3

0.800

GeneticVariation

UNIPROT

Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3.

28265379

2017

dbSNP:

rs121909374

MYBPC3

0.800

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017

dbSNP:

rs121909375

MYBPC3

0.800

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017

dbSNP:

rs121909375

MYBPC3

0.800

GeneticVariation

UNIPROT

Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3.

28265379

2017

dbSNP:

rs199865688

MYBPC3

0.800

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017

dbSNP:

rs199865688

MYBPC3

0.800

GeneticVariation

UNIPROT

Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3.

28265379

2017

dbSNP:

rs36211723

MYBPC3

0.800

GeneticVariation

UNIPROT

Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3.

28265379

2017

dbSNP:

rs36211723

MYBPC3

0.800

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017

dbSNP:

rs375675796

MYBPC3

0.800

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017

dbSNP:

rs375882485

MYBPC3

0.800

GeneticVariation

UNIPROT

Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3.

28265379

2017

dbSNP:

rs397514752

MYBPC3

0.800

GeneticVariation

UNIPROT

Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3.

28265379

2017

dbSNP:

rs397514752

MYBPC3

0.800

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017

dbSNP:

rs397515907

MYBPC3

0.800

GeneticVariation

UNIPROT

Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3.

28265379

2017

dbSNP:

rs397516053

MYBPC3

0.800

GeneticVariation

UNIPROT

Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3.

28265379

2017

dbSNP:

rs397516053

MYBPC3

0.800

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017

dbSNP:

rs397516074

MYBPC3

0.800

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017

dbSNP:

rs397516074

MYBPC3

0.800

GeneticVariation

UNIPROT

Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3.

28265379

2017

dbSNP:

rs573916965

MYBPC3

0.800

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017

dbSNP:

rs573916965

MYBPC3

0.800

GeneticVariation

UNIPROT

Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3.

28265379

2017

dbSNP:

rs121909374

MYBPC3

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs121909375

MYBPC3

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs199865688

MYBPC3

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs36211723

MYBPC3

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs375675796

MYBPC3

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs397514752

MYBPC3

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015