| Disease ID | Disease name | Source of annotation with BLNK | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS601495 | AGAMMAGLOBULINEMIA | ClinVar, OMIM | link to OMIM | 8 | BTK, PIK3R1, LRRC8A, BLNK, CD79A, IGHM, CD79B, IGLL1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Primary immunodeficiency | hsa05340 | 7.52 |
| NF-kappa B signaling pathway | hsa04064 | 6.21 |
| B cell receptor signaling pathway | hsa04662 | 6.52 |
| Osteoclast differentiation | hsa04380 | 5.64 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Antigen activates B Cell Receptor (BCR) leading to generation of second messengers | R-HSA-983695 | 5.6 |
| Regulation of signaling by CBL | R-HSA-912631 | 8.52 |
| Signaling by Interleukins | R-HSA-449147 | 4.71 |
| Immune System | R-HSA-168256 | 2.37 |
| Signaling by the B Cell Receptor (BCR) | R-HSA-983705 | 4.62 |
| Cytokine Signaling in Immune system | R-HSA-1280215 | 3.74 |
| Interleukin-3, 5 and GM-CSF signaling | R-HSA-512988 | 4.99 |
| Adaptive Immune System | R-HSA-1280218 | 3.19 |
| GO term | GO ID | GO IC |
|---|---|---|
| SH3/SH2 adaptor activity | GO:0005070 | 5.79 |
| protein binding, bridging | GO:0030674 | 4.68 |
| signal transducer activity | GO:0004871 | 2.28 |
| signaling adaptor activity | GO:0035591 | 5.43 |
| receptor tyrosine kinase binding | GO:0030971 | 5.77 |
| enzyme binding | GO:0019899 | 2.27 |
| transmembrane receptor protein tyrosine kinase adaptor activity | GO:0005068 | 7.34 |
| protein kinase binding | GO:0019901 | 3.44 |
| kinase binding | GO:0019900 | 3.32 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| receptor binding | GO:0005102 | 2.43 |
| protein tyrosine kinase binding | GO:1990782 | 5.7 |
| binding, bridging | GO:0060090 | 4.57 |