Disease ID | Disease name | Source of annotation with CPT1C | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS303350 | SPASTIC PARAPLEGIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 47 | KIF5A, ATL1, C12orf65, IBA57, GJC2, GBA2, KIAA0196, ZFYVE26, ENTPD1, AP4E1, B4GALNT1, DDHD2, C19orf12, AP5Z1, SPG11, SLC33A1, MAG, CYP2U1, L1CAM, TFG, ARL6IP1, AP4M1, ERLIN2, KIF1A, AMPD2, SPAST, SPG20, AP4S1, HSPD1, RTN2, PLP1, CYP7B1, REEP1, SPG21, TECPR2, BSCL2, PNPLA6, SPG7, VPS37A, NT5C2, NIPA1, DDHD1, CPT1C, ALDH18A1, ZFYVE27, AP4B1, FA2H |
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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 |
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 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
O-acyltransferase activity | GO:0008374 | 5.85 |
transferase activity, transferring acyl groups | GO:0016746 | 4.2 |
palmitoyltransferase activity | GO:0016409 | 6.15 |
transferase activity, transferring acyl groups other than amino-acyl groups | GO:0016747 | 4.37 |