Disease ID | Disease name | Source of annotation with DLAT | 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 |
---|---|---|
Pyruvate metabolism | hsa00620 | 7.45 |
Carbon metabolism | hsa01200 | 6.03 |
Metabolic pathways | hsa01100 | 2.49 |
Glycolysis / Gluconeogenesis | hsa00010 | 6.64 |
Citrate cycle (TCA cycle) | hsa00020 | 7.86 |
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 |
dihydrolipoamide S-acyltransferase activity | GO:0030523 | 9.74 |
S-acyltransferase activity | GO:0016417 | 6.37 |
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 |
transferase activity, transferring acyl groups other than amino-acyl groups | GO:0016747 | 4.37 |
dihydrolipoyllysine-residue acetyltransferase activity | GO:0004742 | 9.74 |
acetyltransferase activity | GO:0016407 | 5.1 |
S-acetyltransferase activity | GO:0016418 | 9.05 |
oxidoreductase activity | GO:0016491 | 3.12 |