Disease ID | Disease name | Source of annotation with MPL | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
254450 | MYELOFIBROSIS | OMIM, HUMSAVAR | link to OMIM | 4 | SH2B3, JAK2, MPL, CALR |
604498 | AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | MPL |
PS187950 | THROMBOCYTHEMIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 5 | SH2B3, JAK2, MPL, THPO, CALR |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Cytokine-cytokine receptor interaction | hsa04060 | 4.67 |
Jak-STAT signaling pathway | hsa04630 | 5.44 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Platelet Aggregation (Plug Formation) | R-HSA-76009 | 7.77 |
Platelet activation, signaling and aggregation | R-HSA-76002 | 5.15 |
Hemostasis | R-HSA-109582 | 3.98 |
GO term | GO ID | GO IC |
---|---|---|
binding | GO:0005488 | 0.18 |
signaling receptor activity | GO:0038023 | 2.49 |
signal transducer activity | GO:0004871 | 2.28 |
thrombopoietin receptor activity | GO:0038164 | 9.74 |
molecular transducer activity | GO:0060089 | 2.32 |
transmembrane signaling receptor activity | GO:0004888 | 2.57 |
receptor activity | GO:0004872 | 2.32 |
protein binding | GO:0005515 | 0.46 |
transmembrane receptor activity | GO:0099600 | 2.53 |
cytokine receptor activity | GO:0004896 | 5.24 |