| Disease ID | Disease name | Source of annotation with PDHX | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS312170 | PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY | ClinVar, OMIM | link to OMIM | 6 | PDHX, PDHA1, PDHB, PDP1, LIAS, DLAT |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolic pathways | hsa01100 | 2.49 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Pyruvate metabolism and Citric Acid (TCA) cycle | R-HSA-71406 | 7.56 |
| Regulation of pyruvate dehydrogenase (PDH) complex | R-HSA-204174 | 9.18 |
| The citric acid (TCA) cycle and respiratory electron transport | R-HSA-1428517 | 5.71 |
| Pyruvate metabolism | R-HSA-70268 | 8.52 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| Signaling by Retinoic Acid | R-HSA-5362517 | 7.62 |
| GO term | GO ID | GO IC |
|---|---|---|
| pyruvate dehydrogenase activity | GO:0004738 | 7.95 |
| pyruvate dehydrogenase (NAD+) activity | GO:0034604 | 7.95 |
| pyruvate dehydrogenase [NAD(P)+] activity | GO:0034603 | 7.95 |
| oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor | GO:0016620 | 6.13 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| oxidoreductase activity, acting on the aldehyde or oxo group of donors | GO:0016903 | 5.87 |
| transferase activity, transferring acyl groups | GO:0016746 | 4.2 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| oxidoreductase activity | GO:0016491 | 3.12 |