Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
0.300 Biomarker disease CLINGEN Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency. 28918066 2017
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
0.300 Biomarker disease CLINGEN Cerebral Developmental Abnormalities in a Mouse with Systemic Pyruvate Dehydrogenase Deficiency. 23840713 2013
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
0.300 Biomarker disease CLINGEN Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein. 21914562 2011
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
0.300 Biomarker disease CLINGEN Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency. 20002461 2010
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
0.300 Biomarker disease CLINGEN PDH E1β deficiency with novel mutations in two patients with Leigh syndrome. 19924563 2009
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
0.300 Biomarker disease CLINGEN Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency. 9187674 1997
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
0.300 Biomarker disease CLINGEN Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency. 8664900 1996
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
0.300 Biomarker disease CLINGEN Molecular genetic characterization of an X-linked form of Leigh's syndrome. 8498846 1993