| Disease ID | Disease name | Source of annotation with BTK | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 307200 | ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III | ClinVar, OMIM | link to OMIM | 1 | BTK |
| PS601495 | AGAMMAGLOBULINEMIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 8 | BTK, PIK3R1, LRRC8A, BLNK, CD79A, IGHM, CD79B, IGLL1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Platelet activation | hsa04611 | 5.66 |
| B cell receptor signaling pathway | hsa04662 | 6.52 |
| Fc epsilon RI signaling pathway | hsa04664 | 6.6 |
| Osteoclast differentiation | hsa04380 | 5.64 |
| Primary immunodeficiency | hsa05340 | 7.52 |
| NF-kappa B signaling pathway | hsa04064 | 6.21 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| RHO GTPases Activate WASPs and WAVEs | R-HSA-5663213 | 7.85 |
| Toll Like Receptor 2 (TLR2) Cascade | R-HSA-181438 | 6.51 |
| Immune System | R-HSA-168256 | 2.37 |
| Signaling by Rho GTPases | R-HSA-194315 | 4.43 |
| Signaling by the B Cell Receptor (BCR) | R-HSA-983705 | 4.62 |
| Diseases associated with the TLR signaling cascade | R-HSA-5602358 | 8.34 |
| IRAK4 deficiency (TLR2/4) | R-HSA-5603041 | 9.52 |
| Adaptive Immune System | R-HSA-1280218 | 3.19 |
| Disease | R-HSA-1643685 | 3.33 |
| Toll-Like Receptors Cascades | R-HSA-168898 | 5.91 |
| FCERI mediated Ca+2 mobilization | R-HSA-2871809 | 5.45 |
| Toll Like Receptor TLR6:TLR2 Cascade | R-HSA-168188 | 6.56 |
| Fcgamma receptor (FCGR) dependent phagocytosis | R-HSA-2029480 | 5.07 |
| Regulation of actin dynamics for phagocytic cup formation | R-HSA-2029482 | 5.23 |
| 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 |
| RHO GTPase Effectors | R-HSA-195258 | 4.94 |
| DAP12 signaling | R-HSA-2424491 | 4.64 |
| Diseases of Immune System | R-HSA-5260271 | 8.34 |
| Antigen activates B Cell Receptor (BCR) leading to generation of second messengers | R-HSA-983695 | 5.6 |
| Toll Like Receptor TLR1:TLR2 Cascade | R-HSA-168179 | 6.51 |
| MyD88 deficiency (TLR2/4) | R-HSA-5602498 | 9.52 |
| DAP12 interactions | R-HSA-2172127 | 4.56 |
| MyD88:Mal cascade initiated on plasma membrane | R-HSA-166058 | 6.56 |
| Activated TLR4 signalling | R-HSA-166054 | 6.27 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GO term | GO ID | GO IC |
|---|---|---|
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| binding | GO:0005488 | 0.18 |
| nucleotide binding | GO:0000166 | 1.96 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| purine nucleoside binding | GO:0001883 | 2.22 |
| nucleoside binding | GO:0001882 | 2.21 |
| cation binding | GO:0043169 | 1.4 |
| phospholipid binding | GO:0005543 | 3.91 |
| ion binding | GO:0043167 | 1.36 |
| transferase activity | GO:0016740 | 1.95 |
| non-membrane spanning protein tyrosine kinase activity | GO:0004715 | 5.91 |
| protein tyrosine kinase activity | GO:0004713 | 4.54 |
| ribonucleoside binding | GO:0032549 | 2.22 |
| purine nucleotide binding | GO:0017076 | 2.19 |
| protein kinase activity | GO:0004672 | 3.27 |
| metal ion binding | GO:0046872 | 1.41 |
| ATP binding | GO:0005524 | 2.43 |
| kinase activity | GO:0016301 | 2.93 |
| lipid binding | GO:0008289 | 3.26 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| phosphatidylinositol phosphate binding | GO:1901981 | 5.05 |
| phosphatidylinositol-3,4,5-trisphosphate binding | GO:0005547 | 6.21 |
| phosphotransferase activity, alcohol group as acceptor | GO:0016773 | 3.08 |
| adenyl nucleotide binding | GO:0030554 | 2.4 |
| phosphatidylinositol binding | GO:0035091 | 4.47 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| adenyl ribonucleotide binding | GO:0032559 | 2.41 |
| identical protein binding | GO:0042802 | 2.63 |
| protein binding | GO:0005515 | 0.46 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
| purine ribonucleotide binding | GO:0032555 | 2.2 |
| receptor binding | GO:0005102 | 2.43 |
| purine ribonucleoside binding | GO:0032550 | 2.22 |
| ribonucleotide binding | GO:0032553 | 2.19 |