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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
primary immunodeficiency disease
Summary
- Synonym
-
- hypoimmunity
- immune deficiency disorder
- immunodeficiency syndrome
- Definition
- An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.
- Super Class
- immune system disease
External Links
- Disease Ontology
- DOID:612
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2821 | GPI | glucose-6-phosphate isomerase | |
| 3383 | ICAM1 | intercellular adhesion molecule 1 | |
| 3417 | IDH1 | isocitrate dehydrogenase (NADP(+)) 1 | |
| 3572 | IL6ST | interleukin 6 cytokine family signal transducer | |
| 3824 | KLRD1 | killer cell lectin like receptor D1 | |
| 3956 | LGALS1 | galectin 1 | |
| 3958 | LGALS3 | galectin 3 | |
| 4153 | MBL2 | mannose binding lectin 2 | |
| 4594 | MMUT | methylmalonyl-CoA mutase | |
| 4860 | PNP | purine nucleoside phosphorylase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q7Z7D3 | V-set domain-containing T-cell activation inhibitor 1 | |
| Q8NFW8 | N-acylneuraminate cytidylyltransferase | |
| Q92185 | Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase | |
| Q9Y251 | Heparanase | |
| Q9Y2E5 | Epididymis-specific alpha-mannosidase | |
| Q9Y2V7 | Conserved oligomeric Golgi complex subunit 6 |
