Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5162
Gene Symbol: PDHB
PDHB 		0.700 Biomarker disease GENOMICS_ENGLAND Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency. 26865159 2016
Entrez Id: 5162
Gene Symbol: PDHB
PDHB 		0.700 Biomarker disease GENOMICS_ENGLAND Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content. 26014431 2016
Entrez Id: 5162
Gene Symbol: PDHB
PDHB 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 5162
Gene Symbol: PDHB
PDHB 		0.700 Biomarker disease GENOMICS_ENGLAND PDH E1β deficiency with novel mutations in two patients with Leigh syndrome. 19924563 2009
Entrez Id: 5162
Gene Symbol: PDHB
PDHB 		0.700 GermlineCausalMutation disease ORPHANET Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency. 15138885 2004
Entrez Id: 5162
Gene Symbol: PDHB
PDHB 		0.700 GeneticVariation disease UNIPROT Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency. 15138885 2004
Entrez Id: 5162
Gene Symbol: PDHB
PDHB 		0.700 Biomarker disease CTD_human