H-InvDB x AHG DB
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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000030868 Accession number: BC002406 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial; EC=1.2.4.1; PDHE1-A type I; Precursor;
 
 

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:27-May-2015
Disease relation Disease name: Leigh syndrome, X-linked (308930);  Disease name: Pyruvate dehydrogenase deficiency (312170); 
Related information in OMIM OMIM ID:  300502;  Title: PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1
Co-localized orphan diseases NA
Disease related mutation MutationView:  300502
JRE-1.4.0 or later is required.Download JRE at Sun's web site.
Literature-Extracted GENe-Disease Associations (LEGENDA) LEGENDA Gene name Entrez Gene ID:(5160)
Disease Entrez Gene ID:(5160)
Substance Entrez Gene ID:(5160)
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo ViewerLEGENDALEGENDA