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
External Links
Disease Ontology
DOID:0060573
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
28 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
570 BAAT bile acid-CoA:amino acid N-acyltransferase
10855 HPSE heparanase
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P16442 Histo-blood group ABO system transferase
Q9Y251 Heparanase

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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