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Standards Ontologies Notations
von Willebrand's disease 1

Summary
Synonym
  • VWD type 1
  • VWD1
  • von Willebrand disease type 1
  • von Willebrand disease type I
Definition
A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13.
Super Class
von Willebrand's disease
Disease Ontology
DOID:0060573
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
3673 ITGA2 integrin subunit alpha 2
3674 ITGA2B integrin subunit alpha 2b
5327 PLAT plasminogen activator, tissue type
7450 VWF von Willebrand factor
Displaying all 4 entries
Gene ID Gene Symbol Description Source
16398 Itga2 integrin alpha 2
16399 Itga2b integrin alpha 2b
18791 Plat plasminogen activator, tissue
22371 Vwf Von Willebrand factor
Displaying 1 entry
Gene ID Gene Symbol Description Source
25692 Plat plasminogen activator, tissue type
Displaying all 2 entries
Gene ID Gene Symbol Description Source
32661 if inflated
36692 scb scab
Displaying 1 entry
Gene ID Gene Symbol Description Source
176240 pat-2 Integrin alpha pat-2
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International Collaboration

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: December 9, 2024