DisGeNET - a database of gene-disease associations

JPH2, junctophilin 2, 57158

N. diseases: 29; N. variants: 11

Source: ALL

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:

rs387906897

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.800

GeneticVariation

UNIPROT

Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.

30235249

2018

dbSNP:

rs387906898

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.800

GeneticVariation

UNIPROT

Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.

30235249

2018

dbSNP:

rs387906897

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.800

GeneticVariation

UNIPROT

Novel junctophilin-2 mutation A405S is associated with basal septal hypertrophy and diastolic dysfunction.

28393127

2017

dbSNP:

rs387906898

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.800

GeneticVariation

UNIPROT

Novel junctophilin-2 mutation A405S is associated with basal septal hypertrophy and diastolic dysfunction.

28393127

2017

dbSNP:

rs387906897

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.800

GeneticVariation

UNIPROT

Human junctophilin-2 undergoes a structural rearrangement upon binding PtdIns(3,4,5)P3 and the S101R mutation identified in hypertrophic cardiomyopathy obviates this response.

24001019

2013

dbSNP:

rs387906898

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.800

GeneticVariation

UNIPROT

Human junctophilin-2 undergoes a structural rearrangement upon binding PtdIns(3,4,5)P3 and the S101R mutation identified in hypertrophic cardiomyopathy obviates this response.

24001019

2013

dbSNP:

rs387906897

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.800

GeneticVariation

UNIPROT

Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans.

17509612

2007

dbSNP:

rs387906898

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.800

GeneticVariation

UNIPROT

Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans.

17509612

2007

dbSNP:

rs387906897

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.800

CausalMutation

CLINVAR

dbSNP:

rs387906898

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.800

CausalMutation

CLINVAR

dbSNP:

rs6017281

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs6031431

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

30578418

2019

dbSNP:

rs6031431

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C0007222
Disease:

Cardiovascular Diseases

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs6103666

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C0042834
Disease:

Vital capacity

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs557878787

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.700

GeneticVariation

UNIPROT

Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.

30235249

2018

dbSNP:

rs587782951

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.700

GeneticVariation

UNIPROT

Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.

30235249

2018

dbSNP:

rs6031431

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C0428886
Disease:

Mean blood pressure

0.700

GeneticVariation

GWASCAT

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

29403010

2018

dbSNP:

rs6031431

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C0428886
Disease:

Mean blood pressure

0.700

GeneticVariation

GWASCAT

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

30487518

2018

dbSNP:

rs6031431

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

29403010

2018

dbSNP:

rs6031431

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

30487518

2018

dbSNP:

rs6031431

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

30487518

2018

dbSNP:

rs557878787

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.700

GeneticVariation

UNIPROT

Novel junctophilin-2 mutation A405S is associated with basal septal hypertrophy and diastolic dysfunction.

28393127

2017

dbSNP:

rs587782951

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.700

GeneticVariation

UNIPROT

Novel junctophilin-2 mutation A405S is associated with basal septal hypertrophy and diastolic dysfunction.

28393127

2017

dbSNP:

rs6031435

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

27841878

2017

dbSNP:

rs2235808

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C0201976
Disease:

Creatinine measurement, serum (procedure)

0.700

GeneticVariation

GWASCAT

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

26831199

2016