| Disease ID | Disease name | Source of annotation with HBB | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 603902 | BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE | ClinVar, OMIM | link to OMIM | 1 | HBB |
| 603903 | SICKLE CELL ANEMIA | OMIM, HUMSAVAR | link to OMIM | 1 | HBB |
| 141749 | FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 | OMIM | link to OMIM | 3 | HBB, HBG1, HBG2 |
| 611162 | MALARIA, SUSCEPTIBILITY TO | OMIM | link to OMIM | 16 | FCGR2A, TIRAP, ICAM1, ACKR1, G6PD, GYPC, TNF, SLC4A1, NOS2, HBB, CISH, GYPB, FCGR2B, CR1, CD36, GYPA |
| 613985 | BETA-THALASSEMIA | OMIM, HUMSAVAR | link to OMIM | 2 | LCRB, HBB |
| 140700 | HEINZ BODY ANEMIAS | OMIM | link to OMIM | 3 | HBA1, HBB, HBA2 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| African trypanosomiasis | hsa05143 | 7.68 |
| Malaria | hsa05144 | 7.15 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Scavenging of heme from plasma | R-HSA-2168880 | 5.61 |
| O2/CO2 exchange in erythrocytes | R-HSA-1480926 | 9.98 |
| Erythrocytes take up oxygen and release carbon dioxide | R-HSA-1247673 | 9.98 |
| Binding and Uptake of Ligands by Scavenger Receptors | R-HSA-2173782 | 5.38 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Factors involved in megakaryocyte development and platelet production | R-HSA-983231 | 5.88 |
| Hemostasis | R-HSA-109582 | 3.98 |
| Erythrocytes take up carbon dioxide and release oxygen | R-HSA-1237044 | 9.98 |
| Vesicle-mediated transport | R-HSA-5653656 | 4.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| oxygen transporter activity | GO:0005344 | 7.17 |
| binding | GO:0005488 | 0.18 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| oxidoreductase activity | GO:0016491 | 3.12 |
| cation binding | GO:0043169 | 1.4 |
| oxidoreductase activity, acting on peroxide as acceptor | GO:0016684 | 6.0 |
| transition metal ion binding | GO:0046914 | 2.48 |
| ion binding | GO:0043167 | 1.36 |
| iron ion binding | GO:0005506 | 4.65 |
| metal ion binding | GO:0046872 | 1.41 |
| heme binding | GO:0020037 | 4.86 |
| transporter activity | GO:0005215 | 2.57 |
| antioxidant activity | GO:0016209 | 5.49 |
| haptoglobin binding | GO:0031720 | 9.05 |
| catalytic activity | GO:0003824 | 1.05 |
| substrate-specific transporter activity | GO:0022892 | 2.72 |
| oxygen binding | GO:0019825 | 5.89 |
| tetrapyrrole binding | GO:0046906 | 4.8 |
| hemoglobin binding | GO:0030492 | 8.13 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| protein binding | GO:0005515 | 0.46 |
| peroxidase activity | GO:0004601 | 6.05 |