ADAMTS13 Gene - CISMeF

Preferred Label : ADAMTS13 Gene;

NCIt synonyms : ADAMTS13; ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 13 Gene;

CISMeF acronym : ADAMTS13;

NCIt definition : This gene plays a role in von Willebrand factor function.;

Details

Origin ID

C118325;

UMLS CUI

C1413036;

Automatic exact mappings (from CISMeF team)
- A disintegrin-like and metalloprotease with thrombospondin type 1 motif, 13 [OMIM gene]
- ADAM metallopeptidase with thrombospondin type 1 motif 13 [ORDO Gene]
- ADAMTS13 gene [LOINC component]
HGNC gene
- ADAM metallopeptidase with thrombospondin type 1 motif 13 [HGNC gene]
OMIM relation
- A disintegrin-like and metalloprotease with thrombospondin type 1 motif, 13 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- A disintegrin-like and metalloprotease with thrombospondin type 1 motif, 13 [OMIM gene]
- ADAM metallopeptidase with thrombospondin type 1 motif 13 [HGNC gene]
- ADAMTS13 gene [LOINC component]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- A Disintegrin and Metalloproteinase with Thrombospondin Motifs 13 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Congenital Thrombotic Thrombocytopenic Purpura [NCIt concept]
gene_plays_role_in_process
- Coagulation Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Integrin Binding [NCIt concept]
- Proteolysis [NCIt concept]
genetic_biomarker_related_to
- ADAMTS13 Activity Less than 10 Percent [NCIt concept]
- Low ADAMTS13 Activity [NCIt concept]
- von Willebrand Coagulation Factor Cleaving Protease Activity Measurement [NCIt concept]
- von Willebrand Coagulation Factor Cleaving Protease Measurement [NCIt concept]

Keyword's position in hierarchy(ies) :

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