| Disease ID | Disease name | Source of annotation with SERPINA1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 309548 | MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE | ClinVar | link to OMIM | 2 | SERPINA1, AFF2 |
| 606963 | PULMONARY DISEASE, CHRONIC OBSTRUCTIVE | OMIM | link to OMIM | 3 | SERPINA1, HMOX1, MMP1 |
| 613490 | ALPHA-1-ANTITRYPSIN DEFICIENCY | ClinVar, OMIM | link to OMIM | 1 | SERPINA1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Complement and coagulation cascades | hsa04610 | 6.58 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Platelet activation, signaling and aggregation | R-HSA-76002 | 5.15 |
| Response to elevated platelet cytosolic Ca2+ | R-HSA-76005 | 6.59 |
| Platelet degranulation | R-HSA-114608 | 6.68 |
| Hemostasis | R-HSA-109582 | 3.98 |
| GO term | GO ID | GO IC |
|---|---|---|
| glycoprotein binding | GO:0001948 | 5.11 |
| peptidase inhibitor activity | GO:0030414 | 4.55 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| peptidase regulator activity | GO:0061134 | 4.37 |
| enzyme binding | GO:0019899 | 2.27 |
| protease binding | GO:0002020 | 5.08 |
| protein binding | GO:0005515 | 0.46 |
| endopeptidase inhibitor activity | GO:0004866 | 4.6 |
| serine-type endopeptidase inhibitor activity | GO:0004867 | 5.16 |
| enzyme inhibitor activity | GO:0004857 | 3.78 |
| molecular function regulator | GO:0098772 | 2.51 |
| endopeptidase regulator activity | GO:0061135 | 4.57 |
| identical protein binding | GO:0042802 | 2.63 |
| binding | GO:0005488 | 0.18 |