JPH2, junctophilin 2, 57158

N. diseases: 29; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906897
rs387906897
Entrez Id: 57158
Gene Symbol: JPH2
JPH2
CUI: C3151264
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17 		G 0.800 CausalMutation CLINVAR
dbSNP: rs387906898
rs387906898
Entrez Id: 57158
Gene Symbol: JPH2
JPH2
CUI: C3151264
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587782951
rs587782951
Entrez Id: 57158
Gene Symbol: JPH2
JPH2
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1326977511
rs1326977511
Entrez Id: 57158
Gene Symbol: JPH2
JPH2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.010 GeneticVariation BEFREE Among 195 Japanese patients (148 index cases and 47 affected family members) with hypertrophic cardiomyopathy (HCM), two heterozygous nonsynonymous nucleotide transitions, G505S and R436C, were newly found in JPH2. 17476457 2007
dbSNP: rs6031431
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
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: rs2235808
rs2235808
Entrez Id: 57158
Gene Symbol: JPH2
JPH2
CUI: C0201976
Disease:
Creatinine measurement, serum (procedure) 		C 0.700 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
dbSNP: rs2235808
rs2235808
Entrez Id: 57158
Gene Symbol: JPH2
JPH2
CUI: C0017654
Disease:
Glomerular Filtration Rate 		C 0.700 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
dbSNP: rs6031435
rs6031435
Entrez Id: 57158
Gene Symbol: JPH2
JPH2
CUI: C0871470
Disease:
Systolic Pressure 		A 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
dbSNP: rs587782951
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
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: rs387906897
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
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: rs557878787
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
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: rs387906897
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
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: rs557878787
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: rs587782951
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
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: rs6031431
rs6031431
Entrez Id: 57158
Gene Symbol: JPH2
JPH2
CUI: C0428886
Disease:
Mean blood pressure 		A 0.700 GeneticVariation GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
dbSNP: rs6031431
rs6031431
Entrez Id: 57158
Gene Symbol: JPH2
JPH2
CUI: C0871470
Disease:
Systolic Pressure 		A 0.700 GeneticVariation GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
dbSNP: rs6031431
rs6031431
Entrez Id: 57158
Gene Symbol: JPH2
JPH2
CUI: C0428883
Disease:
Diastolic blood pressure 		A 0.700 GeneticVariation GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
dbSNP: rs6017281
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
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