Disease ID | Disease name | Source of annotation with SH2B3 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
254450 | MYELOFIBROSIS | OMIM | link to OMIM | 4 | SH2B3, JAK2, MPL, CALR |
PS187950 | THROMBOCYTHEMIA | ClinVar, OMIM | link to OMIM | 5 | SH2B3, JAK2, MPL, THPO, CALR |
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 |
---|---|---|
Neurotrophin signaling pathway | hsa04722 | 5.78 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Factors involved in megakaryocyte development and platelet production | R-HSA-983231 | 5.88 |
Regulation of KIT signaling | R-HSA-1433559 | 8.98 |
Hemostasis | R-HSA-109582 | 3.98 |
Signal Transduction | R-HSA-162582 | 1.78 |
Signaling by SCF-KIT | R-HSA-1433557 | 4.73 |
GO term | GO ID | GO IC |
---|---|---|
signal transducer activity | GO:0004871 | 2.28 |
signaling adaptor activity | GO:0035591 | 5.43 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
binding, bridging | GO:0060090 | 4.57 |