| Disease ID | Disease name | Source of annotation with PLAU | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS142623 | HIRSCHSPRUNG DISEASE | ClinVar | link to OMIM | 21 | TSC2, KDR, GDNF, PTCH1, NTF3, EDN3, IRAK3, ZHX2, GFRA1, AHNAK, POLR2F, FBN1, RET, CNTN5, DPYD, THBS4, EDNRB, CREBBP, SEMA3D, FAT3, PLAU |
| 104300 | ALZHEIMER DISEASE | OMIM | link to OMIM | 13 | MPO, ACE, APBB2, APP, A2M, PAXIP1, NOS3, PSEN2, PLAU, BLMH, PSEN1, HFE, SORL1 |
| PS231200 | BLEEDING DISORDER, PLATELET-TYPE | ClinVar, OMIM | link to OMIM | 21 | NBEAL2, ITGA2, ANO6, GP1BA, P2RY12, GFI1B, ITGA2B, PRKACG, TBXAS1, P2RX1, MYH9, GP6, CD36, ACTN1, ITGB3, GP9, GP1BB, RASGRP2, SLFN14, TBXA2R, PLAU |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Proteoglycans in cancer | hsa05205 | 5.02 |
| NF-kappa B signaling pathway | hsa04064 | 6.21 |
| MicroRNAs in cancer | hsa05206 | 5.38 |
| Complement and coagulation cascades | hsa04610 | 6.58 |
| Transcriptional misregulation in cancer | hsa05202 | 5.21 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Dissolution of Fibrin Clot | R-HSA-75205 | 9.28 |
| Hemostasis | R-HSA-109582 | 3.98 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| endopeptidase activity | GO:0004175 | 3.63 |
| serine-type endopeptidase activity | GO:0004252 | 4.4 |
| serine hydrolase activity | GO:0017171 | 4.26 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
| kinase activity | GO:0016301 | 2.93 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| peptidase activity, acting on L-amino acid peptides | GO:0070011 | 3.26 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| peptidase activity | GO:0008233 | 3.23 |
| serine-type peptidase activity | GO:0008236 | 4.27 |