| Disease ID | Disease name | Source of annotation with CPT1A | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 255120 | CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY | OMIM, HUMSAVAR | link to OMIM | 1 | CPT1A |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| AMPK signaling pathway | hsa04152 | 5.8 |
| Fatty acid metabolism | hsa01212 | 7.07 |
| PPAR signaling pathway | hsa03320 | 6.56 |
| Fatty acid degradation | hsa00071 | 7.15 |
| Adipocytokine signaling pathway | hsa04920 | 6.6 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Circadian Clock | R-HSA-400253 | 7.03 |
| PPARA activates gene expression | R-HSA-1989781 | 6.18 |
| Import of palmitoyl-CoA into the mitochondrial matrix | R-HSA-200425 | 9.52 |
| RORA activates gene expression | R-HSA-1368082 | 8.23 |
| Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | R-HSA-400206 | 6.14 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| Fatty acid, triacylglycerol, and ketone body metabolism | R-HSA-535734 | 5.44 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Signaling by Retinoic Acid | R-HSA-5362517 | 7.62 |
| GO term | GO ID | GO IC |
|---|---|---|
| O-acyltransferase activity | GO:0008374 | 5.85 |
| O-palmitoyltransferase activity | GO:0016416 | 8.13 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| carnitine O-acyltransferase activity | GO:0016406 | 7.95 |
| carnitine O-palmitoyltransferase activity | GO:0004095 | 8.35 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| palmitoleoyltransferase activity | GO:1990698 | 9.05 |
| transferase activity, transferring acyl groups | GO:0016746 | 4.2 |
| palmitoyltransferase activity | GO:0016409 | 6.15 |
| identical protein binding | GO:0042802 | 2.63 |
| transferase activity, transferring acyl groups other than amino-acyl groups | GO:0016747 | 4.37 |