| Disease ID | Disease name | Source of annotation with TBXAS1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 231095 | GHOSAL HEMATODIAPHYSEAL DYSPLASIA | OMIM, HUMSAVAR | link to OMIM | 1 | TBXAS1 |
| PS231200 | BLEEDING DISORDER, PLATELET-TYPE | OMIM | link to OMIM | 21 | NBEAL2, ANO6, GP1BA, ITGA2, GFI1B, ITGA2B, PLAU, PRKACG, P2RY12, ACTN1, TBXAS1, P2RX1, GP6, CD36, SLFN14, ITGB3, GP9, GP1BB, RASGRP2, TBXA2R, MYH9 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Arachidonic acid metabolism | hsa00590 | 6.79 |
| Platelet activation | hsa04611 | 5.66 |
| Metabolic pathways | hsa01100 | 2.49 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Cytochrome P450 - arranged by substrate type | R-HSA-211897 | 7.08 |
| Biological oxidations | R-HSA-211859 | 5.55 |
| Phase 1 - Functionalization of compounds | R-HSA-211945 | 6.7 |
| Synthesis of Prostaglandins (PG) and Thromboxanes (TX) | R-HSA-2162123 | 9.18 |
| Diseases of metabolism | R-HSA-5668914 | 6.57 |
| Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD) | R-HSA-5579032 | 12.98 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Disease | R-HSA-1643685 | 3.33 |
| Arachidonic acid metabolism | R-HSA-2142753 | 7.34 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Eicosanoids | R-HSA-211979 | 9.4 |
| Metabolic disorders of biological oxidation enzymes | R-HSA-5579029 | 7.85 |
| GO term | GO ID | GO IC |
|---|---|---|
| oxidoreductase activity | GO:0016491 | 3.12 |
| cation binding | GO:0043169 | 1.4 |
| monooxygenase activity | GO:0004497 | 5.1 |
| metal ion binding | GO:0046872 | 1.41 |
| isomerase activity | GO:0016853 | 4.62 |
| heme binding | GO:0020037 | 4.86 |
| tetrapyrrole binding | GO:0046906 | 4.8 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| oxidoreductase activity, acting on the CH-CH group of donors | GO:0016627 | 5.66 |
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen | GO:0016705 | 4.65 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| catalytic activity | GO:0003824 | 1.05 |
| 12-hydroxyheptadecatrienoic acid synthase activity | GO:0036134 | 9.74 |
| binding | GO:0005488 | 0.18 |
| thromboxane-A synthase activity | GO:0004796 | 9.74 |
| iron ion binding | GO:0005506 | 4.65 |
| ion binding | GO:0043167 | 1.36 |
| oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor | GO:0016628 | 6.56 |
| transition metal ion binding | GO:0046914 | 2.48 |
| intramolecular oxidoreductase activity | GO:0016860 | 5.75 |