Gene: PDP1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54704
Gene Symbol: PDP1
PDP1 		0.130 GeneticVariation phenotype BEFREE Recently, we identified a novel mutation of the E1alpha PDH gene in a patient with an encephalopathy and lactic acidosis. 15798212 2005
Entrez Id: 54704
Gene Symbol: PDP1
PDP1 		0.130 GeneticVariation phenotype BEFREE An intronic point mutation was identified in the E1alpha PDH gene from a boy with delayed development and lactic acidosis, an X-linked disorder associated with a partial defect in pyruvate dehydrogenase (PDH) activity. 12551913 2003
Entrez Id: 54704
Gene Symbol: PDP1
PDP1 		0.130 Biomarker phenotype BEFREE A case of PDH-E1 alpha mosaicism in a male patient with severe metabolic lactic acidosis. 11757583 2001
Entrez Id: 54704
Gene Symbol: PDP1
PDP1 		0.130 Biomarker phenotype HPO