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
Displaying entries 1 - 10 of 12 in total
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
The Human Phenotype Ontology
Displaying entries 1 - 10 of 16 in total
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
Displaying 1 entry
Gene ID Gene Symbol Description
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024