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Standards Ontologies Notations
CADASIL 1

Summary
Synonym
  • autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1
Definition
A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.
Super Class
CADASIL autosomal dominant disease
External Links
Disease Ontology
DOID:0111035
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
1634 DCN decorin
5476 CTSA cathepsin A
Displaying 1 entry
Gene ID Gene Symbol Description Source
31293 N Notch
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P07585 Decorin
P10619 Lysosomal protective protein
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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