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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
cerebral cavernous malformation 1
Summary
- Definition
- A cerebral cavernous malformation that has_material_basis_in heterozygous mutation in the KRIT1 gene on chromosome 7q21.
- Super Class
- cerebral cavernous malformation
External Links
- Disease Ontology
- DOID:0080491
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 412 | STS | steroid sulfatase | |
| 1048 | CEACAM5 | CEA cell adhesion molecule 5 | |
| 1116 | CHI3L1 | chitinase 3 like 1 | |
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2739 | GLO1 | glyoxalase I | |
| 3383 | ICAM1 | intercellular adhesion molecule 1 | |
| 4684 | NCAM1 | neural cell adhesion molecule 1 | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 5740 | PTGIS | prostaglandin I2 synthase |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002858 | Meningioma |
| HP:0100561 | Spinal cord lesion |
| HP:0002315 | Headache |
| HP:0012721 | Venous malformation |
| HP:0001250 | Seizure |
| HP:0011276 | Vascular skin abnormality |
| HP:0012749 | Focal T2 hypointense brainstem lesion |
| HP:0002572 | Episodic vomiting |
| HP:0001028 | Hemangioma |
| HP:0007872 | Choroidal hemangioma |
