C1S wt Allele - CISMeF

Preferred Label : C1S wt Allele;

NCIt synonyms : Complement Component 1, S Subcomponent Gene; EDSPD2; Complement C1s wt Allele;

NCIt definition : Human C1S wild-type allele is located in the vicinity of 12p13.31 and is approximately 83 kb in length. This allele, which encodes complement C1s subcomponent protein, is involved in complement activation. Mutation of the gene is associated with Ehlers-Danlos syndrome periodontal type 2 and selective complement component C1s deficiency.;

NCI Metathesaurus CUI : CL1647649;

GenBank Accession Number : NM_001734;

Details

Origin ID

C178160;

UMLS CUI

C5550970;

Automatic exact mappings (from CISMeF team)
- Ehlers-danlos syndrome, periodontal type, 2 [OMIM Phenotype]
OMIM relation
- Complement component 1, s subcomponent [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_is_element_in_pathway
- Classical Complement Pathway [NCIt concept]
- Complement and Coagulation Cascade [NCIt concept]
- Systemic Lupus Erythematosus Pathway [NCIt concept]
gene_plays_role_in_process
- Complement Activation [NCIt concept]
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]
- Proteolytic Processing [NCIt concept]

Keyword's position in hierarchy(ies) :

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