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hemoglobin H disease
Summary
- Synonym
-
- HBH
- alpha thalassemia, haemoglobin H type
- alpha thalassemia, hemoglobin H type
- alpha-thalassemia intermedia
- haemoglobin H disease
- haemoglobin H disease, deletional
- hemoglobin H disease, deletional
- Definition
- An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other.
- Super Class
- alpha thalassemia
External Links
- Disease Ontology
- DOID:0110031
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1298 | COL9A2 | collagen type IX alpha 2 chain | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 5091 | PC | pyruvate carboxylase | |
| 5226 | PGD | phosphogluconate dehydrogenase | |
| 5310 | PKD1 | polycystin 1, transient receptor potential channel interacting | |
| 7412 | VCAM1 | vascular cell adhesion molecule 1 | |
| 54575 | UGT1A10 | UDP glucuronosyltransferase family 1 member A10 | |
| 54576 | UGT1A8 | UDP glucuronosyltransferase family 1 member A8 | |
| 54577 | UGT1A7 | UDP glucuronosyltransferase family 1 member A7 | |
| 54578 | UGT1A6 | UDP glucuronosyltransferase family 1 member A6 |
Related Glycoprotein
