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:

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:

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:

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:	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:	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:	C0007222
Disease:

Cardiovascular Diseases

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

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:

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:

rs587782951

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.700

GeneticVariation

UNIPROT

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

17509612

2007

dbSNP:

rs587782951

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.700

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:

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:

rs587782951

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C0949658
Disease:

Cardiomyopathy, Hypertrophic, Familial

0.700

GeneticVariation

CLINVAR

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:

rs587782951

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C0018801
Disease:

Heart failure

0.010

GeneticVariation

BEFREE

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:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.010

GeneticVariation

BEFREE

In conclusion, we propose that the heterozygous JPH2 p.(Thr161Lys) variant is a new Finnish mutation causing atypical HCM.

30235249

2018

dbSNP:

rs587782951

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C1135191
Disease:

Heart Failure, Systolic

0.010

GeneticVariation

BEFREE

We identified 20 individuals affected with HCM with or without systolic heart failure and conduction abnormalities in the nine Finnish families with JPH2 p.(Thr161Lys) variant.

30235249

2018

dbSNP:

rs587782951

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C0018802
Disease:

Congestive heart failure

0.010

GeneticVariation

BEFREE

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

30235249

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:

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:

rs557878787

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.700

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:

rs557878787

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.700

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

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

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

17509612

2007