Disease ID | Disease name | Source of annotation with MPC1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
614741 | MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | MPC1 |
Download the gene annotation in CSV format
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
The citric acid (TCA) cycle and respiratory electron transport | R-HSA-1428517 | 5.71 |
Pyruvate metabolism | R-HSA-70268 | 8.52 |
Pyruvate metabolism and Citric Acid (TCA) cycle | R-HSA-71406 | 7.56 |
Metabolism | R-HSA-1430728 | 2.34 |
GO term | GO ID | GO IC |
---|---|---|
substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
substrate-specific transporter activity | GO:0022892 | 2.72 |
organic anion transmembrane transporter activity | GO:0008514 | 5.31 |
transporter activity | GO:0005215 | 2.57 |
anion transmembrane transporter activity | GO:0008509 | 4.43 |
ion transmembrane transporter activity | GO:0015075 | 3.04 |
pyruvate transmembrane transporter activity | GO:0050833 | 8.64 |
transmembrane transporter activity | GO:0022857 | 2.82 |