Disease ID | Disease name | Source of annotation with PDGFRB | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS228550 | INFANTILE MYOFIBROMATOSIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | PDGFRB, NOTCH3 |
PS213600 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC | ClinVar, OMIM, HUMSAVAR | link to OMIM | 4 | PDGFRB, XPR1, PDGFB, SLC20A2 |
131440 | MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA | OMIM | link to OMIM | 1 | PDGFRB |
601812 | PREMATURE AGING SYNDROME, PENTTINEN TYPE | OMIM | link to OMIM | 1 | PDGFRB |
616592 | KOSAKI OVERGROWTH SYNDROME | ClinVar, OMIM | link to OMIM | 1 | PDGFRB |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Melanoma | hsa05218 | 6.56 |
Gap junction | hsa04540 | 6.24 |
Calcium signaling pathway | hsa04020 | 5.22 |
MicroRNAs in cancer | hsa05206 | 5.38 |
Pathways in cancer | hsa05200 | 3.98 |
Glioma | hsa05214 | 6.66 |
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 |
Choline metabolism in cancer | hsa05231 | 6.09 |
Focal adhesion | hsa04510 | 4.92 |
MAPK signaling pathway | hsa04010 | 4.63 |
HTLV-I infection | hsa05166 | 4.59 |
Regulation of actin cytoskeleton | hsa04810 | 4.9 |
Cytokine-cytokine receptor interaction | hsa04060 | 4.67 |
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 |
PI3K/AKT activation | R-HSA-198203 | 6.32 |
Signaling by Interleukins | R-HSA-449147 | 4.71 |
PI3K events in ERBB4 signaling | R-HSA-1250342 | 6.37 |
Signaling by the B Cell Receptor (BCR) | R-HSA-983705 | 4.62 |
Signaling by Leptin | R-HSA-2586552 | 5.1 |
Constitutive Signaling by Aberrant PI3K in Cancer | R-HSA-2219530 | 7.05 |
PI3K events in ERBB2 signaling | R-HSA-1963642 | 6.37 |
Cytokine Signaling in Immune system | R-HSA-1280215 | 3.74 |
IGF1R signaling cascade | R-HSA-2428924 | 4.85 |
Downstream signal transduction | R-HSA-186763 | 4.65 |
GAB1 signalosome | R-HSA-180292 | 6.31 |
IRS-related events triggered by IGF1R | R-HSA-2428928 | 4.85 |
Signaling by ERBB4 | R-HSA-1236394 | 4.7 |
IRS-mediated signalling | R-HSA-112399 | 4.87 |
MAPK1/MAPK3 signaling | R-HSA-5684996 | 5.11 |
Adaptive Immune System | R-HSA-1280218 | 3.19 |
Disease | R-HSA-1643685 | 3.33 |
Role of LAT2/NTAL/LAB on calcium mobilization | R-HSA-2730905 | 4.95 |
Downstream signaling of activated FGFR1 | R-HSA-5654687 | 4.71 |
MAPK family signaling cascades | R-HSA-5683057 | 4.89 |
PIP3 activates AKT signaling | R-HSA-1257604 | 6.37 |
PI-3K cascade:FGFR3 | R-HSA-5654710 | 6.37 |
Signaling by VEGF | R-HSA-194138 | 4.66 |
Signalling to p38 via RIT and RIN | R-HSA-187706 | 5.12 |
PI-3K cascade:FGFR1 | R-HSA-5654689 | 6.37 |
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 |
SOS-mediated signalling | R-HSA-112412 | 5.15 |
FRS-mediated FGFR3 signaling | R-HSA-5654706 | 5.14 |
Developmental Biology | R-HSA-1266738 | 3.48 |
Signaling by Insulin receptor | R-HSA-74752 | 4.73 |
Downstream signaling events of B Cell Receptor (BCR) | R-HSA-1168372 | 5.59 |
Downstream signaling of activated FGFR3 | R-HSA-5654708 | 4.71 |
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 |
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 |
PI3K/AKT Signaling in Cancer | R-HSA-2219528 | 6.56 |
Diseases of signal transduction | R-HSA-5663202 | 4.89 |
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 |
Signaling by ERBB2 | R-HSA-1227986 | 4.66 |
Signalling to RAS | R-HSA-167044 | 5.08 |
DAP12 signaling | R-HSA-2424491 | 4.64 |
Interleukin-3, 5 and GM-CSF signaling | R-HSA-512988 | 4.99 |
PI-3K cascade:FGFR2 | R-HSA-5654695 | 6.37 |
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 |
NGF signalling via TRKA from the plasma membrane | R-HSA-187037 | 4.51 |
FRS-mediated FGFR1 signaling | R-HSA-5654693 | 5.14 |
Prolonged ERK activation events | R-HSA-169893 | 5.11 |
FRS-mediated FGFR4 signaling | R-HSA-5654712 | 5.14 |
Signalling by NGF | R-HSA-166520 | 4.23 |
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 |
Insulin receptor signalling cascade | R-HSA-74751 | 4.85 |
ARMS-mediated activation | R-HSA-170984 | 5.12 |
Frs2-mediated activation | R-HSA-170968 | 5.12 |
PI-3K cascade:FGFR4 | R-HSA-5654720 | 6.37 |
DAP12 interactions | R-HSA-2172127 | 4.56 |
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 |
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 |
platelet-derived growth factor receptor binding | GO:0005161 | 7.1 |
guanyl-nucleotide exchange factor activity | GO:0005085 | 4.02 |
heterocyclic compound binding | GO:1901363 | 1.06 |
enzyme binding | GO:0019899 | 2.27 |
molecular transducer activity | GO:0060089 | 2.32 |
binding | GO:0005488 | 0.18 |
signal transducer activity | GO:0004871 | 2.28 |
molecular function regulator | GO:0098772 | 2.51 |
transmembrane receptor activity | GO:0099600 | 2.53 |
nucleoside phosphate binding | GO:1901265 | 1.96 |
nucleoside binding | GO:0001882 | 2.21 |
phosphatidylinositol-4,5-bisphosphate 3-kinase activity | GO:0046934 | 5.61 |
G-protein coupled receptor activity | GO:0004930 | 2.95 |
transmembrane receptor protein tyrosine kinase activity | GO:0004714 | 5.55 |
phosphatidylinositol 3-kinase binding | GO:0043548 | 6.41 |
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 |
protein tyrosine kinase activity | GO:0004713 | 4.54 |
protein kinase activity | GO:0004672 | 3.27 |
purine nucleotide binding | GO:0017076 | 2.19 |
platelet-derived growth factor beta-receptor activity | GO:0005019 | 8.64 |
platelet activating factor receptor activity | GO:0004992 | 8.64 |
platelet-derived growth factor-activated receptor activity | GO:0005017 | 8.13 |
vascular endothelial growth factor binding | GO:0038085 | 8.13 |
kinase activity | GO:0016301 | 2.93 |
purine nucleoside binding | GO:0001883 | 2.22 |
protein kinase binding | GO:0019901 | 3.44 |
kinase binding | GO:0019900 | 3.32 |
small molecule binding | GO:0036094 | 1.89 |
adenyl nucleotide binding | GO:0030554 | 2.4 |
carbohydrate derivative binding | GO:0097367 | 2.03 |
organic cyclic compound binding | GO:0097159 | 1.05 |
catalytic activity | GO:0003824 | 1.05 |
growth factor receptor binding | GO:0070851 | 4.87 |
ribonucleoside binding | GO:0032549 | 2.22 |
phosphotransferase activity, alcohol group as acceptor | GO:0016773 | 3.08 |
transmembrane signaling receptor activity | GO:0004888 | 2.57 |
adenyl ribonucleotide binding | GO:0032559 | 2.41 |
ATP binding | GO:0005524 | 2.43 |
protein binding | GO:0005515 | 0.46 |
transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
purine ribonucleotide binding | GO:0032555 | 2.2 |
platelet-derived growth factor binding | GO:0048407 | 7.34 |
receptor binding | GO:0005102 | 2.43 |
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 |