| Disease ID | Disease name | Source of annotation with ORAI1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS160565 | MYOPATHY, TUBULAR AGGREGATE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | STIM1, ORAI1 |
| 612782 | IMMUNODEFICIENCY 9 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | ORAI1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Primary immunodeficiency | hsa05340 | 7.52 |
| Calcium signaling pathway | hsa04020 | 5.22 |
| Platelet activation | hsa04611 | 5.66 |
| cAMP signaling pathway | hsa04024 | 5.05 |
| 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 |
|---|---|---|
| substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
| calcium ion transmembrane transporter activity | GO:0015085 | 4.89 |
| store-operated calcium channel activity | GO:0015279 | 7.34 |
| substrate-specific transporter activity | GO:0022892 | 2.72 |
| cation channel activity | GO:0005261 | 4.04 |
| substrate-specific channel activity | GO:0022838 | 3.67 |
| calcium channel activity | GO:0005262 | 5.03 |
| transporter activity | GO:0005215 | 2.57 |
| ion channel activity | GO:0005216 | 3.71 |
| cation transmembrane transporter activity | GO:0008324 | 3.32 |
| divalent inorganic cation transmembrane transporter activity | GO:0072509 | 4.62 |
| ion transmembrane transporter activity | GO:0015075 | 3.04 |
| transmembrane transporter activity | GO:0022857 | 2.82 |
| channel activity | GO:0015267 | 3.6 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| passive transmembrane transporter activity | GO:0022803 | 3.6 |
| metal ion transmembrane transporter activity | GO:0046873 | 3.71 |
| inorganic cation transmembrane transporter activity | GO:0022890 | 3.49 |
| identical protein binding | GO:0042802 | 2.63 |
| calmodulin binding | GO:0005516 | 4.55 |