F2 wt Allele - CISMeF

Preferred Label : F2 wt Allele;

NCIt synonyms : Coagulation Factor II (Thrombin) wt Allele; PT; RPRGL2; THPH1;

NCIt definition : Human F2 wild-type allele is located in the vicinity of 11p11 and is approximately 20 kb in length. This allele, which encodes prothrombin protein, is involved in the regulation of coagulation. Mutation of the gene is associated with dysprothrombinemia and genetic variation may affect susceptibility to ischemic stroke.;

GenBank Accession Number : M33031;

Details

Origin ID

C82853;

UMLS CUI

C2826539;

Automatic exact mappings (from CISMeF team)
- Paroxysmal tachycardia [ICD-11 Subcategory]
- Point in time (spot) [LOINC time aspect]
- Pregnancy detection examination (procedure) [SNOMED CT concept]
- Pregnancy loss, recurrent, susceptibility to, 2 [OMIM Phenotype]
- Thrombophilia due to thrombin defect [OMIM Phenotype]
- paratenial nucleus [UBERON concept]
- thrombophilia due to thrombin defect [DO Concept]
OMIM relation
- Coagulation factor II [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_associated_with_disease
- Stroke [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Actin Cytoskeleton Regulation Pathway [NCIt concept]
- Angiopoietin-1 Receptor Signaling Pathway [NCIt concept]
- Aspirin Inhibition of Platelet Activation Pathway [NCIt concept]
- Complement and Coagulation Cascade [NCIt concept]
- DBPB Transcriptional Activation Pathway [NCIt concept]
- Extrinsic Prothrombin Activation Pathway [NCIt concept]
- FOXA2 and FOXA3 Transcription Factor Signaling Pathway [NCIt concept]
- Fibrinolysis Pathway [NCIt concept]
- Intrinsic Prothrombin Activation Pathway [NCIt concept]
- Neuroactive Ligand-Receptor Signaling Pathway [NCIt concept]
- Syndecan-4-Mediated Signaling Pathway [NCIt concept]
- Thrombin/Protease-Activated Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Coagulation Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Ligand Binding [NCIt concept]
- Proteolysis [NCIt concept]
- Proteolytic Processing [NCIt concept]

Keyword's position in hierarchy(ies) :

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