| Disease ID | Disease name | Source of annotation with PLCG2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 614878 | AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PLCG2 |
| PS120100 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME | OMIM | link to OMIM | 4 | PLCG2, NLRP3, NLRP12, NLRC4 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Platelet activation | hsa04611 | 5.66 |
| Natural killer cell mediated cytotoxicity | hsa04650 | 5.53 |
| Calcium signaling pathway | hsa04020 | 5.22 |
| Glioma | hsa05214 | 6.66 |
| Leukocyte transendothelial migration | hsa04670 | 5.74 |
| Osteoclast differentiation | hsa04380 | 5.64 |
| HIF-1 signaling pathway | hsa04066 | 5.9 |
| NF-kappa B signaling pathway | hsa04064 | 6.21 |
| Inositol phosphate metabolism | hsa00562 | 6.72 |
| Epstein-Barr virus infection | hsa05169 | 4.97 |
| Epithelial cell signaling in Helicobacter pylori infection | hsa05120 | 6.58 |
| VEGF signaling pathway | hsa04370 | 6.77 |
| Proteoglycans in cancer | hsa05205 | 5.02 |
| MicroRNAs in cancer | hsa05206 | 5.38 |
| Pathways in cancer | hsa05200 | 3.98 |
| Phosphatidylinositol signaling system | hsa04070 | 6.38 |
| B cell receptor signaling pathway | hsa04662 | 6.52 |
| Ras signaling pathway | hsa04014 | 4.9 |
| Inflammatory mediator regulation of TRP channels | hsa04750 | 6.07 |
| ErbB signaling pathway | hsa04012 | 6.15 |
| Fc gamma R-mediated phagocytosis | hsa04666 | 6.21 |
| Thyroid hormone signaling pathway | hsa04919 | 5.82 |
| Non-small cell lung cancer | hsa05223 | 6.88 |
| Metabolic pathways | hsa01100 | 2.49 |
| Neurotrophin signaling pathway | hsa04722 | 5.78 |
| Vibrio cholerae infection | hsa05110 | 6.86 |
| Fc epsilon RI signaling pathway | hsa04664 | 6.6 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Synthesis of IP3 and IP4 in the cytosol | R-HSA-1855204 | 8.34 |
| Role of phospholipids in phagocytosis | R-HSA-2029485 | 5.47 |
| GPVI-mediated activation cascade | R-HSA-114604 | 7.18 |
| Immune System | R-HSA-168256 | 2.37 |
| Signaling by the B Cell Receptor (BCR) | R-HSA-983705 | 4.62 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Adaptive Immune System | R-HSA-1280218 | 3.19 |
| Platelet activation, signaling and aggregation | R-HSA-76002 | 5.15 |
| FCERI mediated MAPK activation | R-HSA-2871796 | 4.32 |
| Toll-Like Receptors Cascades | R-HSA-168898 | 5.91 |
| FCERI mediated Ca+2 mobilization | R-HSA-2871809 | 5.45 |
| C-type lectin receptors (CLRs) | R-HSA-5621481 | 6.06 |
| Dectin-2 family | R-HSA-5621480 | 9.66 |
| Fcgamma receptor (FCGR) dependent phagocytosis | R-HSA-2029480 | 5.07 |
| Fc epsilon receptor (FCERI) signaling | R-HSA-2454202 | 4.03 |
| Toll Like Receptor 4 (TLR4) Cascade | R-HSA-166016 | 6.11 |
| Innate Immune System | R-HSA-168249 | 3.17 |
| CLEC7A (Dectin-1) signaling | R-HSA-5607764 | 6.38 |
| DAP12 signaling | R-HSA-2424491 | 4.64 |
| Antigen activates B Cell Receptor (BCR) leading to generation of second messengers | R-HSA-983695 | 5.6 |
| Inositol phosphate metabolism | R-HSA-1483249 | 7.52 |
| DAP12 interactions | R-HSA-2172127 | 4.56 |
| Hemostasis | R-HSA-109582 | 3.98 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| phosphatidylinositol phospholipase C activity | GO:0004435 | 6.41 |
| signal transducer activity | GO:0004871 | 2.28 |
| phosphoric diester hydrolase activity | GO:0008081 | 5.23 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| phosphoric ester hydrolase activity | GO:0042578 | 3.82 |
| catalytic activity | GO:0003824 | 1.05 |
| phospholipase C activity | GO:0004629 | 6.3 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| phospholipase activity | GO:0004620 | 5.16 |
| lipase activity | GO:0016298 | 4.96 |