| Disease ID | Disease name | Source of annotation with FGFR1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 615465 | HARTSFIELD SYNDROME | OMIM, HUMSAVAR | link to OMIM | 1 | FGFR1 |
| 101600 | PFEIFFER SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | FGFR1, FGFR2 |
| 166250 | OSTEOGLOPHONIC DYSPLASIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | FGFR1 |
| PS190440 | TRIGONOCEPHALY, ISOLATED | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | FGFR1, FREM1 |
| 123150 | JACKSON-WEISS SYNDROME | ClinVar, OMIM | link to OMIM | 2 | FGFR1, FGFR2 |
| PS147950 | HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 24 | TAC3, FGFR1, PROKR2, NSMF, WDR11, HS6ST1, TACR3, KISS1, FEZF1, KISS1R, DUSP6, SEMA3A, FGF17, ANOS1, FSHB, CHD7, FGF8, PROK2, FLRT3, GNRHR, IL17RD, SPRY4, GNRH1, LHB |
| 613001 | ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS | ClinVar, OMIM | link to OMIM | 1 | FGFR1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Signaling pathways regulating pluripotency of stem cells | hsa04550 | 5.6 |
| Proteoglycans in cancer | hsa05205 | 5.02 |
| Pathways in cancer | hsa05200 | 3.98 |
| Prostate cancer | hsa05215 | 6.11 |
| Rap1 signaling pathway | hsa04015 | 4.97 |
| Ras signaling pathway | hsa04014 | 4.9 |
| Central carbon metabolism in cancer | hsa05230 | 6.7 |
| MAPK signaling pathway | hsa04010 | 4.63 |
| Adherens junction | hsa04520 | 6.26 |
| Regulation of actin cytoskeleton | hsa04810 | 4.9 |
| Melanoma | hsa05218 | 6.56 |
| PI3K-Akt signaling pathway | hsa04151 | 4.21 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Interleukin-2 signaling | R-HSA-451927 | 5.05 |
| Signaling by the B Cell Receptor (BCR) | R-HSA-983705 | 4.62 |
| GAB1 signalosome | R-HSA-180292 | 6.31 |
| Developmental Biology | R-HSA-1266738 | 3.48 |
| Signaling by VEGF | R-HSA-194138 | 4.66 |
| FCERI mediated MAPK activation | R-HSA-2871796 | 4.32 |
| IRS-mediated signalling | R-HSA-112399 | 4.87 |
| VEGFA-VEGFR2 Pathway | R-HSA-4420097 | 4.7 |
| L1CAM interactions | R-HSA-373760 | 6.19 |
| Signaling by FGFR1 in disease | R-HSA-5655302 | 7.81 |
| Signaling by EGFR | R-HSA-177929 | 4.59 |
| PI-3K cascade:FGFR3 | R-HSA-5654710 | 6.37 |
| DAP12 interactions | R-HSA-2172127 | 4.56 |
| Downstream signaling of activated FGFR4 | R-HSA-5654716 | 4.71 |
| Signaling by ERBB2 | R-HSA-1227986 | 4.66 |
| VEGFR2 mediated cell proliferation | R-HSA-5218921 | 5.07 |
| PI3K/AKT activation | R-HSA-198203 | 6.32 |
| GRB2 events in ERBB2 signaling | R-HSA-1963640 | 5.15 |
| Frs2-mediated activation | R-HSA-170968 | 5.12 |
| 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 |
| Signalling to p38 via RIT and RIN | R-HSA-187706 | 5.12 |
| FRS-mediated FGFR2 signaling | R-HSA-5654700 | 5.14 |
| FRS-mediated FGFR4 signaling | R-HSA-5654712 | 5.14 |
| FRS-mediated FGFR3 signaling | R-HSA-5654706 | 5.14 |
| Signaling by FGFR1 amplification mutants | R-HSA-1839120 | 12.98 |
| Downstream signaling of activated FGFR3 | R-HSA-5654708 | 4.71 |
| Signaling by activated point mutants of FGFR1 | R-HSA-1839122 | 9.52 |
| 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 |
| Prolonged ERK activation events | R-HSA-169893 | 5.11 |
| Signaling by FGFR2 | R-HSA-5654738 | 4.68 |
| GRB2 events in EGFR signaling | R-HSA-179812 | 5.15 |
| 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 |
| Axon guidance | R-HSA-422475 | 3.93 |
| Gastrin-CREB signalling pathway via PKC and MAPK | R-HSA-881907 | 4.26 |
| FGFR1 ligand binding and activation | R-HSA-190242 | 8.98 |
| Signaling by Leptin | R-HSA-2586552 | 5.1 |
| 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 |
| FGFR1c and Klotho ligand binding and activation | R-HSA-190374 | 11.4 |
| Downstream signaling of activated FGFR1 | R-HSA-5654687 | 4.71 |
| FGFR1c ligand binding and activation | R-HSA-190373 | 9.4 |
| FGFR1b ligand binding and activation | R-HSA-190370 | 10.4 |
| PI-3K cascade:FGFR4 | R-HSA-5654720 | 6.37 |
| PI-3K cascade:FGFR1 | R-HSA-5654689 | 6.37 |
| SHC-mediated cascade:FGFR1 | R-HSA-5654688 | 8.59 |
| Negative regulation of FGFR1 signaling | R-HSA-5654726 | 7.98 |
| Downstream signaling events of B Cell Receptor (BCR) | R-HSA-1168372 | 5.59 |
| PI3K/AKT Signaling in Cancer | R-HSA-2219528 | 6.56 |
| Diseases of signal transduction | R-HSA-5663202 | 4.89 |
| Immune System | R-HSA-168256 | 2.37 |
| Signalling to RAS | R-HSA-167044 | 5.08 |
| PI-3K cascade:FGFR2 | R-HSA-5654695 | 6.37 |
| Downstream signaling of activated FGFR2 | R-HSA-5654696 | 4.71 |
| SHC1 events in EGFR signaling | R-HSA-180336 | 5.15 |
| FRS-mediated FGFR1 signaling | R-HSA-5654693 | 5.14 |
| SHC1 events in ERBB2 signaling | R-HSA-1250196 | 5.15 |
| ARMS-mediated activation | R-HSA-170984 | 5.12 |
| SHC1 events in ERBB4 signaling | R-HSA-1250347 | 5.15 |
| Signaling by PDGF | R-HSA-186797 | 4.53 |
| Signal transduction by L1 | R-HSA-445144 | 8.59 |
| Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) | R-HSA-2404192 | 4.85 |
| Signaling by Interleukins | R-HSA-449147 | 4.71 |
| Cytokine Signaling in Immune system | R-HSA-1280215 | 3.74 |
| SOS-mediated signalling | R-HSA-112412 | 5.15 |
| Signaling by ERBB4 | R-HSA-1236394 | 4.7 |
| MAPK1/MAPK3 signaling | R-HSA-5684996 | 5.11 |
| Adaptive Immune System | R-HSA-1280218 | 3.19 |
| MAPK family signaling cascades | R-HSA-5683057 | 4.89 |
| PIP3 activates AKT signaling | R-HSA-1257604 | 6.37 |
| Phospholipase C-mediated cascade: FGFR1 | R-HSA-5654219 | 7.43 |
| RAF/MAP kinase cascade | R-HSA-5673001 | 5.15 |
| Signaling by FGFR4 | R-HSA-5654743 | 4.69 |
| Signaling by FGFR3 | R-HSA-5654741 | 4.69 |
| Signaling by FGFR | R-HSA-190236 | 4.67 |
| Signaling by SCF-KIT | R-HSA-1433557 | 4.73 |
| NCAM signaling for neurite out-growth | R-HSA-375165 | 4.9 |
| DAP12 signaling | R-HSA-2424491 | 4.64 |
| Interleukin-3, 5 and GM-CSF signaling | R-HSA-512988 | 4.99 |
| Signalling by NGF | R-HSA-166520 | 4.23 |
| Signaling by GPCR | R-HSA-372790 | 2.68 |
| Signalling to ERKs | R-HSA-187687 | 5.04 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GO term | GO ID | GO IC |
|---|---|---|
| Ras guanyl-nucleotide exchange factor activity | GO:0005088 | 4.31 |
| signaling receptor activity | GO:0038023 | 2.49 |
| phosphatidylinositol 3-kinase activity | GO:0035004 | 5.49 |
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| guanyl-nucleotide exchange factor activity | GO:0005085 | 4.02 |
| molecular transducer activity | GO:0060089 | 2.32 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| signal transducer activity | GO:0004871 | 2.28 |
| molecular function regulator | GO:0098772 | 2.51 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| nucleoside binding | GO:0001882 | 2.21 |
| phosphatidylinositol-4,5-bisphosphate 3-kinase activity | GO:0046934 | 5.61 |
| transmembrane receptor protein tyrosine kinase activity | GO:0004714 | 5.55 |
| growth factor binding | GO:0019838 | 4.89 |
| nucleotide binding | GO:0000166 | 1.96 |
| phosphatidylinositol bisphosphate kinase activity | GO:0052813 | 5.56 |
| transferase activity | GO:0016740 | 1.95 |
| identical protein binding | GO:0042802 | 2.63 |
| protein tyrosine kinase activity | GO:0004713 | 4.54 |
| protein kinase activity | GO:0004672 | 3.27 |
| protein complex binding | GO:0032403 | 3.09 |
| purine nucleotide binding | GO:0017076 | 2.19 |
| ATP binding | GO:0005524 | 2.43 |
| protein homodimerization activity | GO:0042803 | 3.16 |
| sulfur compound binding | GO:1901681 | 4.32 |
| kinase activity | GO:0016301 | 2.93 |
| protein binding | GO:0005515 | 0.46 |
| 1-phosphatidylinositol-3-kinase activity | GO:0016303 | 5.98 |
| ribonucleoside binding | GO:0032549 | 2.22 |
| purine nucleoside binding | GO:0001883 | 2.22 |
| fibroblast growth factor binding | GO:0017134 | 6.52 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| cell adhesion molecule binding | GO:0050839 | 4.5 |
| phosphotransferase activity, alcohol group as acceptor | GO:0016773 | 3.08 |
| heparin binding | GO:0008201 | 4.68 |
| glycoprotein binding | GO:0001948 | 5.11 |
| adenyl nucleotide binding | GO:0030554 | 2.4 |
| phosphatidylinositol kinase activity | GO:0052742 | 5.81 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| glycosaminoglycan binding | GO:0005539 | 4.42 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| transmembrane signaling receptor activity | GO:0004888 | 2.57 |
| adenyl ribonucleotide binding | GO:0032559 | 2.41 |
| transmembrane receptor activity | GO:0099600 | 2.53 |
| fibroblast growth factor-activated receptor activity | GO:0005007 | 8.13 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
| purine ribonucleotide binding | GO:0032555 | 2.2 |
| protein dimerization activity | GO:0046983 | 2.72 |
| transmembrane receptor protein kinase activity | GO:0019199 | 5.32 |
| purine ribonucleoside binding | GO:0032550 | 2.22 |
| ribonucleotide binding | GO:0032553 | 2.19 |
| receptor activity | GO:0004872 | 2.32 |