PPA2, inorganic pyrophosphatase 2, 27068

N. diseases: 15; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310663
Disease: SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED
SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED 		0.700 Biomarker disease GENOMICS_ENGLAND Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy. 27523598 2016
CUI: C4310663
Disease: SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED
SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED 		0.700 Biomarker disease GENOMICS_ENGLAND Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. 27523597 2016
CUI: C4310663
Disease: SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED
SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED 		0.700 GeneticVariation disease UNIPROT Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. 27523597 2016
CUI: C4310664
Disease: SUDDEN CARDIAC FAILURE, INFANTILE
SUDDEN CARDIAC FAILURE, INFANTILE 		0.700 Biomarker disease GENOMICS_ENGLAND Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy. 27523598 2016
CUI: C4310664
Disease: SUDDEN CARDIAC FAILURE, INFANTILE
SUDDEN CARDIAC FAILURE, INFANTILE 		0.700 GeneticVariation disease UNIPROT Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy. 27523598 2016
CUI: C4310664
Disease: SUDDEN CARDIAC FAILURE, INFANTILE
SUDDEN CARDIAC FAILURE, INFANTILE 		0.700 GeneticVariation disease UNIPROT Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. 27523597 2016
CUI: C4310664
Disease: SUDDEN CARDIAC FAILURE, INFANTILE
SUDDEN CARDIAC FAILURE, INFANTILE 		0.700 Biomarker disease GENOMICS_ENGLAND Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. 27523597 2016
CUI: C4310663
Disease: SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED
SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED 		0.700 Biomarker disease CTD_human
CUI: C4310663
Disease: SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED
SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED 		0.700 CausalMutation disease CLINVAR
CUI: C4310664
Disease: SUDDEN CARDIAC FAILURE, INFANTILE
SUDDEN CARDIAC FAILURE, INFANTILE 		0.700 CausalMutation disease CLINVAR
CUI: C4310664
Disease: SUDDEN CARDIAC FAILURE, INFANTILE
SUDDEN CARDIAC FAILURE, INFANTILE 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4310664
Disease: SUDDEN CARDIAC FAILURE, INFANTILE
SUDDEN CARDIAC FAILURE, INFANTILE 		0.700 Biomarker disease CTD_human
CUI: C4310664
Disease: SUDDEN CARDIAC FAILURE, INFANTILE
SUDDEN CARDIAC FAILURE, INFANTILE 		0.700 GeneticVariation disease CLINVAR
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. 29942086 2018
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 GeneticVariation disease GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.100 Biomarker disease HPO
CUI: C0027059
Disease: Myocarditis
Myocarditis 		0.100 Biomarker disease HPO
CUI: C0151654
Disease: Myocardial fibrosis
Myocardial fibrosis 		0.100 Biomarker phenotype HPO
CUI: C0428977
Disease: Bradycardia
Bradycardia 		0.100 Biomarker phenotype HPO
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.020 Biomarker group BEFREE PPA2 encodes a mitochondrially located inorganic pyrophosphatase implicated in progressive and lethal cardiomyopathies. 31705601 2020
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.020 GeneticVariation group BEFREE Altogether these data demonstrate that PPA2 is an essential gene in yeast and that biallelic mutations in PPA2 cause a mitochondrial disease leading to sudden cardiac arrest in infants. 27523598 2016