VWF wt Allele - CISMeF

Preferred Label : VWF wt Allele;

NCIt synonyms : VWD; F8VWF; Von Willebrand Factor wt Allele; von Willebrand Disease Gene; FVIII-VWF;

NCIt definition : Human VWF wild-type allele is located in the vicinity of 12p13.31 and is approximately 176 kb in length. This allele, which encodes von Willebrand factor protein, plays a role in factor transport, platelet-vessel wall mediation, and coagulation. Mutations in this gene or deficiencies in this protein result in von Willebrand disease.;

GenBank Accession Number : NM_000552;

Details

Origin ID

C51237;

UMLS CUI

C1710605;

OMIM relation
- Von willebrand factor [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12p13.31 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- von Willebrand Disease [NCIt concept]
gene_is_element_in_pathway
- Complement and Coagulation Cascade [NCIt concept]
- ECM-Receptor Interaction Signaling Pathway [NCIt concept]
- Focal Adhesion Pathway [NCIt concept]
gene_plays_role_in_process
- Coagulation Process [NCIt concept]
- Homeostatic Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Platelet Activation [NCIt concept]

Keyword's position in hierarchy(ies) :

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