F7 wt Allele - CISMeF

Preferred Label : F7 wt Allele;

NCIt synonyms : FA7; Coagulation Factor VII (Serum Prothrombin Conversion Accelerator) wt Allele; SPCA;

NCIt definition : Human F7 wild-type allele is located within 13q34 and is approximately 14 kb in length. This allele, which encodes coagulation factor VII protein, plays a role in homeostasis and blood coagulation. Defects in the gene associated with variant alleles are causative agents for coagulopathy.;

GenBank Accession Number : NM_000131;

Détails

Origin ID

C51234;

UMLS CUI

C1707994;

Automatic exact mappings (from CISMeF team)
- Coagulation factor VII (substance) [SNOMED CT concept]
OMIM relation
- Coagulation factor VII [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Coagulation Factor Deficiency [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 13: 112808106-112822346 [NCIt concept]
gene_in_chromosomal_location
- 13q34 [NCIt concept]
gene_is_element_in_pathway
- Acute Myocardial Infarction Pathway [NCIt concept]
- Complement and Coagulation Cascade [NCIt concept]
- Extrinsic Prothrombin Activation Pathway [NCIt concept]
gene_plays_role_in_process
- Calcium Binding [NCIt concept]
- Coagulation Process [NCIt concept]
- Homeostatic Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Ligand Binding [NCIt concept]
- Proteolysis [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients