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 congenital neutropenia
Summary
- Definition
- A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.
- Super Class
- neutropenia physical disorder
External Links
- Disease Ontology
- DOID:0050590
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 7372 | UMPS | uridine monophosphate synthetase | |
| 8794 | TNFRSF10C | TNF receptor superfamily member 10c | |
| 9663 | LPIN2 | lipin 2 | |
| 10135 | NAMPT | nicotinamide phosphoribosyltransferase | |
| 10559 | SLC35A1 | solute carrier family 35 member A1 | |
| 10998 | SLC27A5 | solute carrier family 27 member 5 | |
| 25839 | COG4 | component of oligomeric golgi complex 4 | |
| 26503 | SLC17A5 | solute carrier family 17 member 5 | |
| 27087 | B3GAT1 | beta-1,3-glucuronyltransferase 1 | |
| 51302 | CYP39A1 | cytochrome P450 family 39 subfamily A member 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11172 | Uridine 5'-monophosphate synthase | |
| P11226 | Mannose-binding protein C | |
| P12821 | Angiotensin-converting enzyme | |
| P13591 | Neural cell adhesion molecule 1 | |
| P16109 | P-selectin | |
| P16442 | Histo-blood group ABO system transferase | |
| P19224 | UDP-glucuronosyltransferase 1-6 | |
| P19835 | Bile salt-activated lipase | |
| P20138 | Myeloid cell surface antigen CD33 | |
| P20815 | Cytochrome P450 3A5 |
