Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children. 25087164 2015
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children. 25087164 2015
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene. 12557299 2003
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 		0.700 GermlineCausalMutation disease ORPHANET Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis. 9399911 1997
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 		0.700 Biomarker disease CTD_human
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 		0.700 GeneticVariation disease CLINVAR
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 		0.700 CausalMutation disease CLINVAR