| Disease ID | Disease name | Source of annotation with PLCB1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS308350 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE | OMIM | link to OMIM | 37 | KCNT1, EEF1A2, SZT2, ALG13, ST3GAL3, WWOX, ITPA, SIK1, SCN1A, ARHGEF9, GNAO1, TBC1D24, DNM1, SLC35A2, GRIN2B, SLC13A5, SLC25A22, HCN1, KCNB1, STXBP1, SCN9A, PNKP, KCNQ2, SPTAN1, KCNA2, SCN2A, PLCB1, AARS, PCDH19, CDKL5, GABRA1, SLC12A5, DOCK7, ARX, SCN8A, NECAP1, PIGA |
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| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Platelet activation | hsa04611 | 5.66 |
| cGMP-PKG signaling pathway | hsa04022 | 5.32 |
| Calcium signaling pathway | hsa04020 | 5.22 |
| Long-term potentiation | hsa04720 | 6.64 |
| Retrograde endocannabinoid signaling | hsa04723 | 6.03 |
| Cholinergic synapse | hsa04725 | 5.88 |
| Glutamatergic synapse | hsa04724 | 5.84 |
| Serotonergic synapse | hsa04726 | 5.84 |
| Dopaminergic synapse | hsa04728 | 5.69 |
| Chemokine signaling pathway | hsa04062 | 5.19 |
| Oxytocin signaling pathway | hsa04921 | 5.4 |
| Inositol phosphate metabolism | hsa00562 | 6.72 |
| Endocrine and other factor-regulated calcium reabsorption | hsa04961 | 7.12 |
| Circadian entrainment | hsa04713 | 6.11 |
| Chagas disease (American trypanosomiasis) | hsa05142 | 5.99 |
| African trypanosomiasis | hsa05143 | 7.68 |
| Amoebiasis | hsa05146 | 5.82 |
| Wnt signaling pathway | hsa04310 | 5.49 |
| Vascular smooth muscle contraction | hsa04270 | 5.74 |
| Gap junction | hsa04540 | 6.24 |
| Pathways in cancer | hsa05200 | 3.98 |
| GnRH signaling pathway | hsa04912 | 6.18 |
| Phosphatidylinositol signaling system | hsa04070 | 6.38 |
| Rap1 signaling pathway | hsa04015 | 4.97 |
| Insulin secretion | hsa04911 | 6.18 |
| Melanogenesis | hsa04916 | 5.97 |
| Estrogen signaling pathway | hsa04915 | 6.11 |
| Thyroid hormone synthesis | hsa04918 | 6.56 |
| Thyroid hormone signaling pathway | hsa04919 | 5.82 |
| Long-term depression | hsa04730 | 6.74 |
| Salivary secretion | hsa04970 | 6.23 |
| Gastric acid secretion | hsa04971 | 6.48 |
| Pancreatic secretion | hsa04972 | 6.07 |
| Metabolic pathways | hsa01100 | 2.49 |
| Inflammatory mediator regulation of TRP channels | hsa04750 | 6.07 |
| Huntington's disease | hsa05016 | 5.17 |
| Alzheimer's disease | hsa05010 | 5.34 |
| Adrenergic signaling in cardiomyocytes | hsa04261 | 5.44 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Synthesis of IP3 and IP4 in the cytosol | R-HSA-1855204 | 8.34 |
| Free fatty acids regulate insulin secretion | R-HSA-400451 | 9.98 |
| Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion | R-HSA-434316 | 9.98 |
| Metabolism | R-HSA-1430728 | 2.34 |
| G-protein beta:gamma signalling | R-HSA-397795 | 7.31 |
| Gastrin-CREB signalling pathway via PKC and MAPK | R-HSA-881907 | 4.26 |
| Ca2+ pathway | R-HSA-4086398 | 7.1 |
| Neuronal System | R-HSA-112316 | 4.82 |
| Signaling by GPCR | R-HSA-372790 | 2.68 |
| Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell | R-HSA-112314 | 5.85 |
| Transmission across Chemical Synapses | R-HSA-112315 | 5.28 |
| GPCR downstream signaling | R-HSA-388396 | 3.07 |
| beta-catenin independent WNT signaling | R-HSA-3858494 | 5.83 |
| Integration of energy metabolism | R-HSA-163685 | 6.24 |
| Inositol phosphate metabolism | R-HSA-1483249 | 7.52 |
| Signaling by Wnt | R-HSA-195721 | 4.79 |
| Regulation of insulin secretion | R-HSA-422356 | 6.66 |
| PLC beta mediated events | R-HSA-112043 | 7.52 |
| G-protein mediated events | R-HSA-112040 | 7.49 |
| Activation of Kainate Receptors upon glutamate binding | R-HSA-451326 | 8.08 |
| Opioid Signalling | R-HSA-111885 | 6.64 |
| Acetylcholine regulates insulin secretion | R-HSA-399997 | 9.66 |
| G alpha (q) signalling events | R-HSA-416476 | 5.42 |
| Presynaptic function of Kainate receptors | R-HSA-500657 | 8.59 |
| G beta:gamma signalling through PLC beta | R-HSA-418217 | 8.66 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GO term | GO ID | GO IC |
|---|---|---|
| enzyme binding | GO:0019899 | 2.27 |
| phosphoric ester hydrolase activity | GO:0042578 | 3.82 |
| binding | GO:0005488 | 0.18 |
| signal transducer activity | GO:0004871 | 2.28 |
| molecular function regulator | GO:0098772 | 2.51 |
| cation binding | GO:0043169 | 1.4 |
| phosphoric diester hydrolase activity | GO:0008081 | 5.23 |
| phospholipid binding | GO:0005543 | 3.91 |
| phosphatidylinositol-4,5-bisphosphate binding | GO:0005546 | 5.81 |
| ion binding | GO:0043167 | 1.36 |
| phosphatidylinositol bisphosphate binding | GO:1902936 | 5.79 |
| calcium ion binding | GO:0005509 | 3.17 |
| lamin binding | GO:0005521 | 6.91 |
| identical protein binding | GO:0042802 | 2.63 |
| protein homodimerization activity | GO:0042803 | 3.16 |
| hydrolase activity | GO:0016787 | 1.9 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| GTPase activator activity | GO:0005096 | 4.11 |
| lipid binding | GO:0008289 | 3.26 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| GTPase regulator activity | GO:0030695 | 4.01 |
| phosphatidylinositol phosphate binding | GO:1901981 | 5.05 |
| nucleoside-triphosphatase regulator activity | GO:0060589 | 3.92 |
| phospholipase activity | GO:0004620 | 5.16 |
| phosphatidylinositol phospholipase C activity | GO:0004435 | 6.41 |
| metal ion binding | GO:0046872 | 1.41 |
| catalytic activity | GO:0003824 | 1.05 |
| phosphatidylinositol binding | GO:0035091 | 4.47 |
| phospholipase C activity | GO:0004629 | 6.3 |
| calmodulin binding | GO:0005516 | 4.55 |
| protein binding | GO:0005515 | 0.46 |
| protein dimerization activity | GO:0046983 | 2.72 |
| lipase activity | GO:0016298 | 4.96 |
| enzyme activator activity | GO:0008047 | 3.56 |