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inflammatory bowel disease 1
Summary
- Synonym
-
- IBD1
- Definition
- An inflammatory bowel disease that has_material_basis_in mutations in the NOD2 gene on chromosome 16q12.1.
- Super Class
- inflammatory bowel disease monogenic disease
External Links
- Disease Ontology
- DOID:0110892
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 4968 | OGG1 | 8-oxoguanine DNA glycosylase | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 5226 | PGD | phosphogluconate dehydrogenase | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5315 | PKM | pyruvate kinase M1/2 | |
| 5319 | PLA2G1B | phospholipase A2 group IB |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13085 | Acetyl-CoA carboxylase 1 | |
| Q13093 | Platelet-activating factor acetylhydrolase | |
| Q13454 | Tumor suppressor candidate 3 | |
| Q13478 | Interleukin-18 receptor 1 | |
| Q13615 | Myotubularin-related protein 3 | |
| Q14002 | Carcinoembryonic antigen-related cell adhesion molecule 7 | |
| Q14118 | Dystroglycan 1 | |
| Q15485 | Ficolin-2 | |
| Q29983 | MHC class I polypeptide-related sequence A | |
| Q2KHT3 | Protein CLEC16A |
