| Disease ID | Disease name | Source of annotation with STIM1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS160565 | MYOPATHY, TUBULAR AGGREGATE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | STIM1, ORAI1 |
| 612783 | IMMUNODEFICIENCY 10 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | STIM1 |
| 185070 | STORMORKEN SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | STIM1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Calcium signaling pathway | hsa04020 | 5.22 |
| Platelet activation | hsa04611 | 5.66 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Antigen activates B Cell Receptor (BCR) leading to generation of second messengers | R-HSA-983695 | 5.6 |
| Elevation of cytosolic Ca2+ levels | R-HSA-139853 | 9.81 |
| Immune System | R-HSA-168256 | 2.37 |
| Platelet calcium homeostasis | R-HSA-418360 | 8.73 |
| Adaptive Immune System | R-HSA-1280218 | 3.19 |
| Signaling by the B Cell Receptor (BCR) | R-HSA-983705 | 4.62 |
| Platelet homeostasis | R-HSA-418346 | 6.68 |
| Hemostasis | R-HSA-109582 | 3.98 |
| GO term | GO ID | GO IC |
|---|---|---|
| cation binding | GO:0043169 | 1.4 |
| tubulin binding | GO:0015631 | 4.1 |
| metal ion binding | GO:0046872 | 1.41 |
| protease binding | GO:0002020 | 5.08 |
| cytoskeletal protein binding | GO:0008092 | 3.02 |
| microtubule binding | GO:0008017 | 4.42 |
| microtubule plus-end binding | GO:0051010 | 7.44 |
| enzyme binding | GO:0019899 | 2.27 |
| ion binding | GO:0043167 | 1.36 |
| calcium ion binding | GO:0005509 | 3.17 |
| protein binding | GO:0005515 | 0.46 |
| channel regulator activity | GO:0016247 | 4.88 |
| calcium channel regulator activity | GO:0005246 | 6.15 |
| molecular function regulator | GO:0098772 | 2.51 |
| identical protein binding | GO:0042802 | 2.63 |
| binding | GO:0005488 | 0.18 |