PPA2, inorganic pyrophosphatase 2, 27068

N. diseases: 15; N. variants: 15
Disease: SUDDEN CARDIAC FAILURE, INFANTILE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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