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 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: 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: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		0.010 GeneticVariation disease BEFREE We sequenced the PPA2 gene in 13 patients with mitochondrial DNA depletion syndromes (MDS) of unknown cause to determine if mutations in the PPA2 gene of these patients were associated with this disease. 16300924 2006
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 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: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.020 GeneticVariation group BEFREE These individuals show a range of severity, indicating that PPA2 mutations may cause a spectrum of mitochondrial disease phenotypes. 27523597 2016
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.020 Biomarker group BEFREE These findings confirm the pathogenicity of PPA2 mutations and suggest that PPA2 is a cardiomyopathy-associated protein, which has a greater physiological importance in mitochondrial function than previously recognized. 27523597 2016
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: 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: 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
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.010 GeneticVariation disease BEFREE Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy. 27523598 2016
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 AlteredExpression group BEFREE Other changes were specific for adenomas (PPA1 and PPA2 up-regulation; KCTD12 downregulation) or adenocarcinoma (ANP32B, G6PD, RCN1, and SET up-regulation; downregulated AKR1B1, APEX1, and PPA1). 28062797 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 GeneticVariation disease GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
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