| Disease ID | Disease name | Source of annotation with JAK2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 601626 | LEUKEMIA, ACUTE MYELOID | ClinVar, OMIM, HUMSAVAR | link to OMIM | 23 | FLT3, RUNX1, WHSC1L1, KIT, MLF1, CHIC2, CEBPA, LPP, SH3GL1, PICALM, NPM1, CBFB, ETV6, SETBP1, MLLT10, TERT, NUP214, JAK2, GATA2, TGM6, DDX41, NSD1, KRAS |
| 254450 | MYELOFIBROSIS | OMIM | link to OMIM | 4 | SH2B3, JAK2, MPL, CALR |
| PS187950 | THROMBOCYTHEMIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 5 | SH2B3, THPO, JAK2, CALR, MPL |
| 263300 | POLYCYTHEMIA VERA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | JAK2 |
| PS133100 | ERYTHROCYTOSIS, FAMILIAL | ClinVar, OMIM | link to OMIM | 6 | VHL, EPAS1, JAK2, SH2B3, EPOR, EGLN1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Signaling pathways regulating pluripotency of stem cells | hsa04550 | 5.6 |
| Tuberculosis | hsa05152 | 5.17 |
| Jak-STAT signaling pathway | hsa04630 | 5.44 |
| Leishmaniasis | hsa05140 | 6.32 |
| Cholinergic synapse | hsa04725 | 5.88 |
| Prolactin signaling pathway | hsa04917 | 6.6 |
| Toxoplasmosis | hsa05145 | 5.71 |
| Influenza A | hsa05164 | 5.21 |
| Herpes simplex infection | hsa05168 | 5.08 |
| Adipocytokine signaling pathway | hsa04920 | 6.6 |
| Chemokine signaling pathway | hsa04062 | 5.19 |
| Measles | hsa05162 | 5.6 |
| PI3K-Akt signaling pathway | hsa04151 | 4.21 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) | R-HSA-2404192 | 4.85 |
| Gastrin-CREB signalling pathway via PKC and MAPK | R-HSA-881907 | 4.26 |
| NCAM signaling for neurite out-growth | R-HSA-375165 | 4.9 |
| Signaling by Interleukins | R-HSA-449147 | 4.71 |
| GPVI-mediated activation cascade | R-HSA-114604 | 7.18 |
| Signaling by Leptin | R-HSA-2586552 | 5.1 |
| Frs2-mediated activation | R-HSA-170968 | 5.12 |
| Cytokine Signaling in Immune system | R-HSA-1280215 | 3.74 |
| IGF1R signaling cascade | R-HSA-2428924 | 4.85 |
| Signaling by FGFR3 | R-HSA-5654741 | 4.69 |
| IRS-related events triggered by IGF1R | R-HSA-2428928 | 4.85 |
| Signaling by ERBB4 | R-HSA-1236394 | 4.7 |
| Factors involved in megakaryocyte development and platelet production | R-HSA-983231 | 5.88 |
| IRS-mediated signalling | R-HSA-112399 | 4.87 |
| MAPK1/MAPK3 signaling | R-HSA-5684996 | 5.11 |
| Chromatin modifying enzymes | R-HSA-3247509 | 5.19 |
| RAF activation | R-HSA-5673000 | 8.34 |
| RAF/MAP kinase cascade | R-HSA-5673001 | 5.15 |
| RMTs methylate histone arginines | R-HSA-3214858 | 7.49 |
| Signalling to RAS | R-HSA-167044 | 5.08 |
| ARMS-mediated activation | R-HSA-170984 | 5.12 |
| Downstream signaling of activated FGFR1 | R-HSA-5654687 | 4.71 |
| MAPK family signaling cascades | R-HSA-5683057 | 4.89 |
| Signalling by NGF | R-HSA-166520 | 4.23 |
| Growth hormone receptor signaling | R-HSA-982772 | 8.4 |
| Signaling by VEGF | R-HSA-194138 | 4.66 |
| Signalling to p38 via RIT and RIN | R-HSA-187706 | 5.12 |
| Platelet activation, signaling and aggregation | R-HSA-76002 | 5.15 |
| FCERI mediated MAPK activation | R-HSA-2871796 | 4.32 |
| Signaling by EGFR | R-HSA-177929 | 4.59 |
| FRS-mediated FGFR2 signaling | R-HSA-5654700 | 5.14 |
| DAP12 interactions | R-HSA-2172127 | 4.56 |
| FRS-mediated FGFR3 signaling | R-HSA-5654706 | 5.14 |
| NGF signalling via TRKA from the plasma membrane | R-HSA-187037 | 4.51 |
| Signaling by Insulin receptor | R-HSA-74752 | 4.73 |
| GPCR downstream signaling | R-HSA-388396 | 3.07 |
| Interferon Signaling | R-HSA-913531 | 4.95 |
| DAP12 signaling | R-HSA-2424491 | 4.64 |
| Insulin receptor signalling cascade | R-HSA-74751 | 4.85 |
| Signaling by FGFR4 | R-HSA-5654743 | 4.69 |
| RAF-independent MAPK1/3 activation | R-HSA-112409 | 8.46 |
| VEGFA-VEGFR2 Pathway | R-HSA-4420097 | 4.7 |
| GRB2 events in ERBB2 signaling | R-HSA-1963640 | 5.15 |
| Interleukin receptor SHC signaling | R-HSA-912526 | 5.09 |
| Signaling by FGFR | R-HSA-190236 | 4.67 |
| Downstream signaling of activated FGFR3 | R-HSA-5654708 | 4.71 |
| Fc epsilon receptor (FCERI) signaling | R-HSA-2454202 | 4.03 |
| Immune System | R-HSA-168256 | 2.37 |
| Downstream signaling of activated FGFR4 | R-HSA-5654716 | 4.71 |
| Innate Immune System | R-HSA-168249 | 3.17 |
| Signaling by SCF-KIT | R-HSA-1433557 | 4.73 |
| Interleukin-2 signaling | R-HSA-451927 | 5.05 |
| SHC1 events in ERBB2 signaling | R-HSA-1250196 | 5.15 |
| Developmental Biology | R-HSA-1266738 | 3.48 |
| Signaling by ERBB2 | R-HSA-1227986 | 4.66 |
| G beta:gamma signalling through PI3Kgamma | R-HSA-392451 | 7.4 |
| Interferon gamma signaling | R-HSA-877300 | 5.67 |
| Interleukin-3, 5 and GM-CSF signaling | R-HSA-512988 | 4.99 |
| Downstream signaling of activated FGFR2 | R-HSA-5654696 | 4.71 |
| Signaling by FGFR1 | R-HSA-5654736 | 4.69 |
| SHC1 events in EGFR signaling | R-HSA-180336 | 5.15 |
| Nuclear signaling by ERBB4 | R-HSA-1251985 | 7.7 |
| FRS-mediated FGFR1 signaling | R-HSA-5654693 | 5.14 |
| Prolonged ERK activation events | R-HSA-169893 | 5.11 |
| Interleukin-6 signaling | R-HSA-1059683 | 9.52 |
| FRS-mediated FGFR4 signaling | R-HSA-5654712 | 5.14 |
| Signaling by GPCR | R-HSA-372790 | 2.68 |
| Signaling by FGFR2 | R-HSA-5654738 | 4.68 |
| GRB2 events in EGFR signaling | R-HSA-179812 | 5.15 |
| Signalling to ERKs | R-HSA-187687 | 5.04 |
| Prolactin receptor signaling | R-HSA-1170546 | 9.08 |
| G-protein beta:gamma signalling | R-HSA-397795 | 7.31 |
| Hemostasis | R-HSA-109582 | 3.98 |
| MAPK1 (ERK2) activation | R-HSA-112411 | 9.81 |
| Regulation of IFNG signaling | R-HSA-877312 | 9.18 |
| SOS-mediated signalling | R-HSA-112412 | 5.15 |
| Chromatin organization | R-HSA-4839726 | 5.19 |
| SHC1 events in ERBB4 signaling | R-HSA-1250347 | 5.15 |
| Signaling by PDGF | R-HSA-186797 | 4.53 |
| Axon guidance | R-HSA-422475 | 3.93 |
| VEGFR2 mediated cell proliferation | R-HSA-5218921 | 5.07 |
| MAPK3 (ERK1) activation | R-HSA-110056 | 9.66 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| Downstream signal transduction | R-HSA-186763 | 4.65 |
| GO term | GO ID | GO IC |
|---|---|---|
| cytokine receptor binding | GO:0005126 | 4.14 |
| Ras guanyl-nucleotide exchange factor activity | GO:0005088 | 4.31 |
| protein C-terminus binding | GO:0008022 | 4.5 |
| histone binding | GO:0042393 | 4.72 |
| histone tyrosine kinase activity | GO:0035400 | 9.74 |
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| guanyl-nucleotide exchange factor activity | GO:0005085 | 4.02 |
| enzyme binding | GO:0019899 | 2.27 |
| interleukin-12 receptor binding | GO:0005143 | 8.13 |
| small molecule binding | GO:0036094 | 1.89 |
| binding | GO:0005488 | 0.18 |
| G-protein coupled receptor binding | GO:0001664 | 4.18 |
| nucleotide binding | GO:0000166 | 1.96 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| nucleoside binding | GO:0001882 | 2.21 |
| cation binding | GO:0043169 | 1.4 |
| molecular function regulator | GO:0098772 | 2.51 |
| insulin receptor substrate binding | GO:0043560 | 7.25 |
| kinase binding | GO:0019900 | 3.32 |
| phosphatidylinositol 3-kinase binding | GO:0043548 | 6.41 |
| ion binding | GO:0043167 | 1.36 |
| transferase activity | GO:0016740 | 1.95 |
| non-membrane spanning protein tyrosine kinase activity | GO:0004715 | 5.91 |
| purine nucleoside binding | GO:0001883 | 2.22 |
| protein kinase activity | GO:0004672 | 3.27 |
| purine nucleotide binding | GO:0017076 | 2.19 |
| metal ion binding | GO:0046872 | 1.41 |
| ATP binding | GO:0005524 | 2.43 |
| protein tyrosine kinase activity | GO:0004713 | 4.54 |
| growth factor receptor binding | GO:0070851 | 4.87 |
| SH2 domain binding | GO:0042169 | 6.34 |
| kinase activity | GO:0016301 | 2.93 |
| growth hormone receptor binding | GO:0005131 | 8.13 |
| heme binding | GO:0020037 | 4.86 |
| acetylcholine receptor binding | GO:0033130 | 7.66 |
| ribonucleoside binding | GO:0032549 | 2.22 |
| histone kinase activity | GO:0035173 | 6.79 |
| protein kinase binding | GO:0019901 | 3.44 |
| catalytic activity | GO:0003824 | 1.05 |
| type 1 angiotensin receptor binding | GO:0031702 | 7.44 |
| protein domain specific binding | GO:0019904 | 3.32 |
| peptide hormone receptor binding | GO:0051428 | 6.91 |
| histone kinase activity (H3-Y41 specific) | GO:0035401 | 9.74 |
| hormone receptor binding | GO:0051427 | 4.57 |
| angiotensin receptor binding | GO:0031701 | 7.25 |
| adenyl nucleotide binding | GO:0030554 | 2.4 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| tetrapyrrole binding | GO:0046906 | 4.8 |
| phosphotransferase activity, alcohol group as acceptor | GO:0016773 | 3.08 |
| adenyl ribonucleotide binding | GO:0032559 | 2.41 |
| 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 |