pyruvate decarboxylase deficiency Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex. (Human Disease Ontology, DOID_3649)
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Genes

20 genes co-occuring with the disease pyruvate decarboxylase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 2.87183
PDHX pyruvate dehydrogenase complex, component X 2.08962
PC pyruvate carboxylase 1.59564
HIBCH 3-hydroxyisobutyryl-CoA hydrolase 1.52644
PDHB pyruvate dehydrogenase (lipoamide) beta 1.47682
DLAT dihydrolipoamide S-acetyltransferase 1.39564
NFU1 NFU1 iron-sulfur cluster scaffold 1.23907
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 1.1422
SRSF5 serine/arginine-rich splicing factor 5 1.13459
SCP2 sterol carrier protein 2 0.90321
PFKM phosphofructokinase, muscle 0.847488
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 0.757378
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies) 0.752085
NR0B1 nuclear receptor subfamily 0, group B, member 1 0.524588
GAA glucosidase, alpha; acid 0.459373
FLNA filamin A, alpha 0.396353
G6PC glucose-6-phosphatase, catalytic subunit 0.388538
PYGB phosphorylase, glycogen; brain 0.381481
PYGL phosphorylase, glycogen, liver 0.378143
PYGM phosphorylase, glycogen, muscle 0.352659