Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.700 GeneticVariation disease UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency. 26865159 2016
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.700 CausalMutation disease CLINVAR Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency. 26865159 2016
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.700 CausalMutation disease CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979 2015
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.700 CausalMutation disease CLINVAR Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein. 21914562 2011
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.700 CausalMutation disease CLINVAR Increased superoxide accumulation in pyruvate dehydrogenase complex deficient fibroblasts. 21846590 2011
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.700 CausalMutation disease CLINVAR Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency. 20002461 2010
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.700 GermlineCausalMutation disease ORPHANET Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency. 20002461 2010
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.700 CausalMutation disease CLINVAR Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis. 20002125 2010
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.700 CausalMutation disease CLINVAR A Korean female patient with thiamine-responsive pyruvate dehydrogenase complex deficiency due to a novel point mutation (Y161C)in the PDHA1 gene. 17043409 2006
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.700 GermlineCausalMutation disease ORPHANET Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit. 15384102 2004
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.700 CausalMutation disease CLINVAR Caveats when considering ketogenic diets for the treatment of pyruvate dehydrogenase complex deficiency. 11241048 2001
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.700 GermlineCausalMutation disease ORPHANET Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. 10679936 2000
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.700 CausalMutation disease CLINVAR Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. 10679936 2000
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.700 CausalMutation disease CLINVAR Analysis of exonic mutations leading to exon skipping in patients with pyruvate dehydrogenase E1 alpha deficiency. 11102541 2000
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. 10679936 2000
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.700 CausalMutation disease CLINVAR Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations. 10775534 2000
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.700 CausalMutation disease CLINVAR Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity. 9671272 1998
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.700 GeneticVariation disease UNIPROT Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity. 9671272 1998
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.700 GeneticVariation disease UNIPROT Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency. 9266390 1997
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.700 GeneticVariation disease UNIPROT Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency. 8664900 1996
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.700 GeneticVariation disease UNIPROT Three new mutations of the pyruvate dehydrogenase alpha subunit: a point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS-->TVDQS). 8844217 1996
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.700 GeneticVariation disease UNIPROT Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit. 7757088 1995
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		0.700 GeneticVariation disease UNIPROT An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein. 7573035 1995