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alpha thalassemia-X-linked intellectual disability syndrome
Summary
- Synonym
-
- ATR, nondeletion type
- ATR-X syndrome
- alpha-thalassemia/mental retardation syndrome nondeletion type
- Definition
- An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21.
- Super Class
- X-linked dominant disease alpha thalassemia
External Links
- Disease Ontology
- DOID:0110030
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1298 | COL9A2 | collagen type IX alpha 2 chain | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 3417 | IDH1 | isocitrate dehydrogenase (NADP(+)) 1 | |
| 3418 | IDH2 | isocitrate dehydrogenase (NADP(+)) 2 | |
| 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 |
Related Glycoprotein
