Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
severe combined immunodeficiency
Summary
- Synonym
-
- SCID
- combined T and B cell inborn immunodeficiency
- Definition
- A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems.
- Super Class
- combined immunodeficiency
External Links
- Disease Ontology
- DOID:627
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5728 | PTEN | phosphatase and tensin homolog | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 6646 | SOAT1 | sterol O-acyltransferase 1 | |
| 8050 | PDHX | pyruvate dehydrogenase complex component X | |
| 8809 | IL18R1 | interleukin 18 receptor 1 | |
| 10855 | HPSE | heparanase | |
| 23600 | AMACR | alpha-methylacyl-CoA racemase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13478 | Interleukin-18 receptor 1 | |
| Q14002 | Carcinoembryonic antigen-related cell adhesion molecule 7 | |
| Q9Y251 | Heparanase |
