| Disease ID | Disease name | Source of annotation with WAS | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 301000 | WISKOTT-ALDRICH SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | WAS |
| PS202700 | NEUTROPENIA, SEVERE CONGENITAL | ClinVar, OMIM, HUMSAVAR | link to OMIM | 7 | ELANE, HAX1, WAS, GFI1, JAGN1, VPS45, G6PC3 |
| 313900 | THROMBOCYTOPENIA 1 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | WAS |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Salmonella infection | hsa05132 | 6.29 |
| Shigellosis | hsa05131 | 6.74 |
| Pathogenic Escherichia coli infection | hsa05130 | 6.99 |
| Bacterial invasion of epithelial cells | hsa05100 | 6.34 |
| Adherens junction | hsa04520 | 6.26 |
| Choline metabolism in cancer | hsa05231 | 6.09 |
| Fc gamma R-mediated phagocytosis | hsa04666 | 6.21 |
| Chemokine signaling pathway | hsa04062 | 5.19 |
| Regulation of actin cytoskeleton | hsa04810 | 4.9 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Generation of second messenger molecules | R-HSA-202433 | 7.34 |
| RHO GTPase Effectors | R-HSA-195258 | 4.94 |
| Fcgamma receptor (FCGR) dependent phagocytosis | R-HSA-2029480 | 5.07 |
| RHO GTPases Activate WASPs and WAVEs | R-HSA-5663213 | 7.85 |
| Regulation of actin dynamics for phagocytic cup formation | R-HSA-2029482 | 5.23 |
| Innate Immune System | R-HSA-168249 | 3.17 |
| Immune System | R-HSA-168256 | 2.37 |
| Signaling by Rho GTPases | R-HSA-194315 | 4.43 |
| TCR signaling | R-HSA-202403 | 6.64 |
| Adaptive Immune System | R-HSA-1280218 | 3.19 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GO term | GO ID | GO IC |
|---|---|---|
| protein kinase binding | GO:0019901 | 3.44 |
| kinase binding | GO:0019900 | 3.32 |
| cytoskeletal protein binding | GO:0008092 | 3.02 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| SH3 domain binding | GO:0017124 | 4.98 |
| enzyme binding | GO:0019899 | 2.27 |
| actin binding | GO:0003779 | 3.74 |
| GTPase regulator activity | GO:0030695 | 4.01 |
| phospholipase binding | GO:0043274 | 6.91 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| molecular function regulator | GO:0098772 | 2.51 |
| nucleoside-triphosphatase regulator activity | GO:0060589 | 3.92 |
| identical protein binding | GO:0042802 | 2.63 |
| protein domain specific binding | GO:0019904 | 3.32 |