| Disease ID | Disease name | Source of annotation with PIK3R1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS601495 | AGAMMAGLOBULINEMIA | ClinVar, OMIM | link to OMIM | 8 | BTK, PIK3R1, LRRC8A, BLNK, CD79A, IGHM, CD79B, IGLL1 |
| 269880 | SHORT SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PIK3R1 |
| 616005 | IMMUNODEFICIENCY 36 | ClinVar, OMIM | link to OMIM | 1 | PIK3R1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Melanoma | hsa05218 | 6.56 |
| Platelet activation | hsa04611 | 5.66 |
| Fc gamma R-mediated phagocytosis | hsa04666 | 6.21 |
| Small cell lung cancer | hsa05222 | 6.17 |
| cGMP-PKG signaling pathway | hsa04022 | 5.32 |
| Natural killer cell mediated cytotoxicity | hsa04650 | 5.53 |
| Colorectal cancer | hsa05210 | 6.52 |
| Renal cell carcinoma | hsa05211 | 6.6 |
| Jak-STAT signaling pathway | hsa04630 | 5.44 |
| Signaling pathways regulating pluripotency of stem cells | hsa04550 | 5.6 |
| cAMP signaling pathway | hsa04024 | 5.05 |
| Prostate cancer | hsa05215 | 6.11 |
| Leukocyte transendothelial migration | hsa04670 | 5.74 |
| Cholinergic synapse | hsa04725 | 5.88 |
| Choline metabolism in cancer | hsa05231 | 6.09 |
| FoxO signaling pathway | hsa04068 | 5.63 |
| Osteoclast differentiation | hsa04380 | 5.64 |
| HIF-1 signaling pathway | hsa04066 | 5.9 |
| Chemokine signaling pathway | hsa04062 | 5.19 |
| Oxytocin signaling pathway | hsa04921 | 5.4 |
| Aldosterone-regulated sodium reabsorption | hsa04960 | 7.41 |
| VEGF signaling pathway | hsa04370 | 6.77 |
| Focal adhesion | hsa04510 | 4.92 |
| Endometrial cancer | hsa05213 | 6.81 |
| Type II diabetes mellitus | hsa04930 | 7.12 |
| Progesterone-mediated oocyte maturation | hsa04914 | 6.18 |
| Chagas disease (American trypanosomiasis) | hsa05142 | 5.99 |
| Pancreatic cancer | hsa05212 | 6.56 |
| Amoebiasis | hsa05146 | 5.82 |
| Epstein-Barr virus infection | hsa05169 | 4.97 |
| Toxoplasmosis | hsa05145 | 5.71 |
| Influenza A | hsa05164 | 5.21 |
| Apoptosis | hsa04210 | 6.23 |
| HTLV-I infection | hsa05166 | 4.59 |
| PI3K-Akt signaling pathway | hsa04151 | 4.21 |
| Hepatitis C | hsa05160 | 5.68 |
| Hepatitis B | hsa05161 | 5.52 |
| Measles | hsa05162 | 5.6 |
| B cell receptor signaling pathway | hsa04662 | 6.52 |
| Chronic myeloid leukemia | hsa05220 | 6.48 |
| Bacterial invasion of epithelial cells | hsa05100 | 6.34 |
| Proteoglycans in cancer | hsa05205 | 5.02 |
| Toll-like receptor signaling pathway | hsa04620 | 6.0 |
| Pathways in cancer | hsa05200 | 3.98 |
| Viral carcinogenesis | hsa05203 | 5.08 |
| T cell receptor signaling pathway | hsa04660 | 6.01 |
| Phosphatidylinositol signaling system | hsa04070 | 6.38 |
| Rap1 signaling pathway | hsa04015 | 4.97 |
| Ras signaling pathway | hsa04014 | 4.9 |
| Inflammatory mediator regulation of TRP channels | hsa04750 | 6.07 |
| Prolactin signaling pathway | hsa04917 | 6.6 |
| Acute myeloid leukemia | hsa05221 | 6.74 |
| Estrogen signaling pathway | hsa04915 | 6.11 |
| TNF signaling pathway | hsa04668 | 5.96 |
| Thyroid hormone signaling pathway | hsa04919 | 5.82 |
| AMPK signaling pathway | hsa04152 | 5.8 |
| mTOR signaling pathway | hsa04150 | 6.72 |
| Regulation of actin cytoskeleton | hsa04810 | 4.9 |
| Carbohydrate digestion and absorption | hsa04973 | 7.28 |
| Non-small cell lung cancer | hsa05223 | 6.88 |
| Insulin signaling pathway | hsa04910 | 5.55 |
| Neurotrophin signaling pathway | hsa04722 | 5.78 |
| Non-alcoholic fatty liver disease (NAFLD) | hsa04932 | 5.51 |
| Central carbon metabolism in cancer | hsa05230 | 6.7 |
| Glioma | hsa05214 | 6.66 |
| Fc epsilon RI signaling pathway | hsa04664 | 6.6 |
| Adrenergic signaling in cardiomyocytes | hsa04261 | 5.44 |
| ErbB signaling pathway | hsa04012 | 6.15 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Synthesis of PIPs at the plasma membrane | R-HSA-1660499 | 7.94 |
| GPVI-mediated activation cascade | R-HSA-114604 | 7.18 |
| Interleukin-2 signaling | R-HSA-451927 | 5.05 |
| Signaling by the B Cell Receptor (BCR) | R-HSA-983705 | 4.62 |
| Cell-Cell communication | R-HSA-1500931 | 5.87 |
| GAB1 signalosome | R-HSA-180292 | 6.31 |
| Signaling by VEGF | R-HSA-194138 | 4.66 |
| IRS-mediated signalling | R-HSA-112399 | 4.87 |
| Signaling by Ligand-Responsive EGFR Variants in Cancer | R-HSA-5637815 | 8.73 |
| Constitutive Signaling by EGFRvIII | R-HSA-5637810 | 9.08 |
| Signaling by EGFRvIII in Cancer | R-HSA-5637812 | 9.08 |
| TCR signaling | R-HSA-202403 | 6.64 |
| VEGFA-VEGFR2 Pathway | R-HSA-4420097 | 4.7 |
| Downstream signaling of activated FGFR3 | R-HSA-5654708 | 4.71 |
| Fcgamma receptor (FCGR) dependent phagocytosis | R-HSA-2029480 | 5.07 |
| Signaling by FGFR1 in disease | R-HSA-5655302 | 7.81 |
| Signaling by EGFR | R-HSA-177929 | 4.59 |
| G alpha (q) signalling events | R-HSA-416476 | 5.42 |
| PI-3K cascade:FGFR3 | R-HSA-5654710 | 6.37 |
| DAP12 interactions | R-HSA-2172127 | 4.56 |
| Tie2 Signaling | R-HSA-210993 | 8.81 |
| Downstream signaling of activated FGFR4 | R-HSA-5654716 | 4.71 |
| Signaling by ERBB2 | R-HSA-1227986 | 4.66 |
| PI3K/AKT activation | R-HSA-198203 | 6.32 |
| Immune System | R-HSA-168256 | 2.37 |
| PI3K events in ERBB2 signaling | R-HSA-1963642 | 6.37 |
| Downstream signal transduction | R-HSA-186763 | 4.65 |
| Role of LAT2/NTAL/LAB on calcium mobilization | R-HSA-2730905 | 4.95 |
| Regulation of signaling by CBL | R-HSA-912631 | 8.52 |
| CD28 co-stimulation | R-HSA-389356 | 7.98 |
| CD28 dependent PI3K/Akt signaling | R-HSA-389357 | 8.59 |
| Signaling by EGFR in Cancer | R-HSA-1643713 | 8.73 |
| FGFR1 mutant receptor activation | R-HSA-1839124 | 8.12 |
| Signaling by FGFR in disease | R-HSA-1226099 | 7.49 |
| Fc epsilon receptor (FCERI) signaling | R-HSA-2454202 | 4.03 |
| Interleukin receptor SHC signaling | R-HSA-912526 | 5.09 |
| Innate Immune System | R-HSA-168249 | 3.17 |
| NGF signalling via TRKA from the plasma membrane | R-HSA-187037 | 4.51 |
| Antigen activates B Cell Receptor (BCR) leading to generation of second messengers | R-HSA-983695 | 5.6 |
| Signaling by FGFR2 | R-HSA-5654738 | 4.68 |
| Signaling by FGFR1 | R-HSA-5654736 | 4.69 |
| PI3K events in ERBB4 signaling | R-HSA-1250342 | 6.37 |
| PI3K Cascade | R-HSA-109704 | 6.68 |
| Signaling by FGFR2 in disease | R-HSA-5655253 | 8.23 |
| Signaling by FGFR3 in disease | R-HSA-5655332 | 8.52 |
| Constitutive Signaling by Aberrant PI3K in Cancer | R-HSA-2219530 | 7.05 |
| IGF1R signaling cascade | R-HSA-2428924 | 4.85 |
| IRS-related events triggered by IGF1R | R-HSA-2428928 | 4.85 |
| Signaling by Insulin receptor | R-HSA-74752 | 4.73 |
| Disease | R-HSA-1643685 | 3.33 |
| Insulin receptor signalling cascade | R-HSA-74751 | 4.85 |
| Downstream signaling of activated FGFR1 | R-HSA-5654687 | 4.71 |
| PI-3K cascade:FGFR4 | R-HSA-5654720 | 6.37 |
| PI-3K cascade:FGFR1 | R-HSA-5654689 | 6.37 |
| Gastrin-CREB signalling pathway via PKC and MAPK | R-HSA-881907 | 4.26 |
| Downstream signaling events of B Cell Receptor (BCR) | R-HSA-1168372 | 5.59 |
| Role of phospholipids in phagocytosis | R-HSA-2029485 | 5.47 |
| Downstream TCR signaling | R-HSA-202424 | 7.01 |
| PI3K/AKT Signaling in Cancer | R-HSA-2219528 | 6.56 |
| Diseases of signal transduction | R-HSA-5663202 | 4.89 |
| G beta:gamma signalling through PI3Kgamma | R-HSA-392451 | 7.4 |
| PI-3K cascade:FGFR2 | R-HSA-5654695 | 6.37 |
| Downstream signaling of activated FGFR2 | R-HSA-5654696 | 4.71 |
| Signaling by FGFR1 fusion mutants | R-HSA-1839117 | 8.81 |
| Signaling by PDGF | R-HSA-186797 | 4.53 |
| Nephrin interactions | R-HSA-373753 | 8.46 |
| Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) | R-HSA-2404192 | 4.85 |
| Signaling by Interleukins | R-HSA-449147 | 4.71 |
| Cell surface interactions at the vascular wall | R-HSA-202733 | 6.32 |
| Cytokine Signaling in Immune system | R-HSA-1280215 | 3.74 |
| GP1b-IX-V activation signalling | R-HSA-430116 | 9.66 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Signaling by ERBB4 | R-HSA-1236394 | 4.7 |
| Adaptive Immune System | R-HSA-1280218 | 3.19 |
| Interleukin-7 signaling | R-HSA-1266695 | 9.52 |
| PIP3 activates AKT signaling | R-HSA-1257604 | 6.37 |
| Platelet activation, signaling and aggregation | R-HSA-76002 | 5.15 |
| Phospholipid metabolism | R-HSA-1483257 | 5.83 |
| PI Metabolism | R-HSA-1483255 | 7.31 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Costimulation by the CD28 family | R-HSA-388841 | 6.56 |
| Signaling by FGFR4 | R-HSA-5654743 | 4.69 |
| Signaling by FGFR3 | R-HSA-5654741 | 4.69 |
| Signaling by FGFR | R-HSA-190236 | 4.67 |
| G alpha (12/13) signalling events | R-HSA-416482 | 6.75 |
| GPCR downstream signaling | R-HSA-388396 | 3.07 |
| Signaling by SCF-KIT | R-HSA-1433557 | 4.73 |
| DAP12 signaling | R-HSA-2424491 | 4.64 |
| Interleukin-3, 5 and GM-CSF signaling | R-HSA-512988 | 4.99 |
| Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants | R-HSA-1236382 | 8.73 |
| Signalling by NGF | R-HSA-166520 | 4.23 |
| Signaling by GPCR | R-HSA-372790 | 2.68 |
| G-protein beta:gamma signalling | R-HSA-397795 | 7.31 |
| Signaling by FGFR4 in disease | R-HSA-5655291 | 9.52 |
| Hemostasis | R-HSA-109582 | 3.98 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GO term | GO ID | GO IC |
|---|---|---|
| peptide hormone binding | GO:0017046 | 6.13 |
| cytokine receptor binding | GO:0005126 | 4.14 |
| neurotrophin TRKA receptor binding | GO:0005168 | 7.79 |
| signal transducer activity | GO:0004871 | 2.28 |
| neurotrophin TRK receptor binding | GO:0005167 | 7.66 |
| enzyme binding | GO:0019899 | 2.27 |
| neurotrophin receptor binding | GO:0005165 | 7.17 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| phosphatidylinositol 3-kinase activity | GO:0035004 | 5.49 |
| molecular function regulator | GO:0098772 | 2.51 |
| kinase regulator activity | GO:0019207 | 4.5 |
| phosphatidylinositol-4,5-bisphosphate 3-kinase activity | GO:0046934 | 5.61 |
| 1-phosphatidylinositol-3-kinase regulator activity | GO:0046935 | 7.95 |
| peptide binding | GO:0042277 | 4.22 |
| receptor binding | GO:0005102 | 2.43 |
| phosphatidylinositol 3-kinase binding | GO:0043548 | 6.41 |
| receptor tyrosine kinase binding | GO:0030971 | 5.77 |
| phosphatidylinositol 3-kinase regulatory subunit binding | GO:0036312 | 7.44 |
| phosphatidylinositol bisphosphate kinase activity | GO:0052813 | 5.56 |
| transferase activity | GO:0016740 | 1.95 |
| 1-phosphatidylinositol-3-kinase activity | GO:0016303 | 5.98 |
| protein complex binding | GO:0032403 | 3.09 |
| ErbB-3 class receptor binding | GO:0043125 | 8.35 |
| protein tyrosine kinase binding | GO:1990782 | 5.7 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| kinase activity | GO:0016301 | 2.93 |
| amide binding | GO:0033218 | 4.14 |
| insulin-like growth factor receptor binding | GO:0005159 | 7.03 |
| insulin receptor binding | GO:0005158 | 6.27 |
| transcription factor binding | GO:0008134 | 3.46 |
| protein kinase binding | GO:0019901 | 3.44 |
| kinase binding | GO:0019900 | 3.32 |
| protein phosphatase binding | GO:0019903 | 4.93 |
| phosphatase binding | GO:0019902 | 4.63 |
| phosphatidylinositol 3-kinase regulator activity | GO:0035014 | 7.79 |
| insulin receptor substrate binding | GO:0043560 | 7.25 |
| hormone binding | GO:0042562 | 5.53 |
| binding, bridging | GO:0060090 | 4.57 |
| protein binding, bridging | GO:0030674 | 4.68 |
| catalytic activity | GO:0003824 | 1.05 |
| phosphatidylinositol kinase activity | GO:0052742 | 5.81 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
| insulin binding | GO:0043559 | 8.13 |
| transmembrane receptor protein tyrosine kinase adaptor activity | GO:0005068 | 7.34 |
| signaling adaptor activity | GO:0035591 | 5.43 |
| protein binding | GO:0005515 | 0.46 |
| protein dimerization activity | GO:0046983 | 2.72 |
| protein heterodimerization activity | GO:0046982 | 3.64 |
| phosphotransferase activity, alcohol group as acceptor | GO:0016773 | 3.08 |