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: rs6103666
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: rs387906897
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
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: rs557878787
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: rs587782951
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: rs387906897
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
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: rs557878787
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
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: rs387906898
rs387906898
Entrez Id: 57158
Gene Symbol: JPH2
JPH2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.010 GeneticVariation BEFREE Three novel HCM-susceptibility mutations: S101R, Y141H and S165F, which localize to key functional domains, were discovered in 3/388 unrelated patients with HCM and were absent in 1000 ethnic-matched reference alleles. 17509612 2007
dbSNP: rs6031431
rs6031431
Entrez Id: 57158
Gene Symbol: JPH2
JPH2
CUI: C0871470
Disease:
Systolic Pressure 		G 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs587782951
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: rs140740776
rs140740776
Entrez Id: 57158
Gene Symbol: JPH2
JPH2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.010 GeneticVariation BEFREE When Fisher's exact test was used to compare index cases with HCM to unrelated Japanese healthy controls in the frequencies of mutant alleles, only the G505S mutation showed statistical significance (4/296 HCM patients and 0/472 control individuals, P=0.022). 17476457 2007