Disease ID | Disease name | Source of annotation with CPT2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
608836 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL | ClinVar, OMIM | link to OMIM | 1 | CPT2 |
255110 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | CPT2 |
PS610551 | ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED | ClinVar, OMIM | link to OMIM | 7 | TLR3, CPT2, IRF3, TICAM1, UNC93B1, TRAF3, RANBP2 |
600649 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | CPT2 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Fatty acid metabolism | hsa01212 | 7.07 |
PPAR signaling pathway | hsa03320 | 6.56 |
Fatty acid degradation | hsa00071 | 7.15 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
PPARA activates gene expression | R-HSA-1989781 | 6.18 |
Import of palmitoyl-CoA into the mitochondrial matrix | R-HSA-200425 | 9.52 |
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | R-HSA-400206 | 6.14 |
Metabolism | R-HSA-1430728 | 2.34 |
Fatty acid, triacylglycerol, and ketone body metabolism | R-HSA-535734 | 5.44 |
Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
GO term | GO ID | GO IC |
---|---|---|
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 |
transferase activity, transferring acyl groups other than amino-acyl groups | GO:0016747 | 4.37 |
O-acyltransferase activity | GO:0008374 | 5.85 |
transferase activity, transferring acyl groups | GO:0016746 | 4.2 |
palmitoyltransferase activity | GO:0016409 | 6.15 |