PROC wt Allele

Preferred Label : PROC wt Allele;

NCIt synonyms : THPH3; THPH4; PC; APC; Protein C (Inactivator Of Coagulation Factors Va and VIIIa) wt Allele; PROC1;

NCIt definition : Human PROC wild-type allele is located within 2q13-q14 and is approximately 11 kb in length. This allele, which encodes vitamin K-dependent protein C, plays a role in the negative regulation of blood coagulation. Mutation of the gene is associated with thrombophilia due to protein C deficiency.;

GenBank Accession Number : X02750;

Details

Origin ID

C102825;

UMLS CUI

C3540812;

Automatic exact mappings (from CISMeF team)
- APC [ICHI extension code]
- APC regulator of WNT signaling pathway [ORDO Gene]
- Adenomatous polyp of the colon [ICD-11 More detail]
- Apc regulator of wnt signaling pathway [OMIM gene]
- Familial adenomatous polyposis 1 [OMIM Phenotype]
- Pachyonychia congenita [ORDO Disease]
- Podocalyxin-like [OMIM gene]
- Protein C [OMIM gene]
- Pyruvate carboxylase [OMIM gene]
- Pyruvate carboxylase [LOINC component]
- Thrombophilia due to protein C deficiency, autosomal dominant [OMIM Phenotype]
- Thrombophilia due to protein C deficiency, autosomal recessive [OMIM Phenotype]
- adenomatous polyposis coli [MeSH Descriptor]
- anaphase-promoting complex [GO term]
- antigen presentation function [OBI concept]
- antigen-presenting cells [MeSH Descriptor]
- autosomal dominant thrombophilia due to protein C deficiency [DO Concept]
- autosomal recessive thrombophilia due to protein C deficiency [DO Concept]
- genes, APC [MeSH concept]
- genes, apc [MeSH Descriptor]
- microcomputers [MeSH Descriptor]
- paracentral nucleus [UBERON concept]
- planar chromatography [IUPAC Term]
- podocalyxin like [ORDO Gene]
- pyruvate carboxylase [ORDO Gene]
- pyruvate carboxylase [MeSH Descriptor]
- unconsciousness [MeSH Descriptor]
False automatic mappings
- APC [ICD-11 Extension code]
OMIM relation
- Protein C [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Acute Myocardial Infarction Pathway [NCIt concept]
- Beta-Catenin Accumulation Pathway [NCIt concept]
- Complement and Coagulation Cascade [NCIt concept]
- Extrinsic Prothrombin Activation Pathway [NCIt concept]
- Intrinsic Prothrombin Activation Pathway [NCIt concept]
- Pitx2 Transcription Regulation Pathway [NCIt concept]
- Segmentation Clock Pathway [NCIt concept]
- TGF Beta Signaling Pathway BioCarta [NCIt concept]
- WNT Signaling Pathway BioCarta [NCIt concept]
gene_plays_role_in_process
- Coagulation Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Leukocyte Trafficking [NCIt concept]
- Ligand Binding [NCIt concept]
- Negative Regulation of Coagulation [NCIt concept]
- Protein Turnover [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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