C1QA wt Allele

Preferred Label : C1QA wt Allele;

NCIt synonyms : C1qA; Complement Component C1q, A Chain Gene; Complement Component 1, Q Subcomponent, Alpha Polypeptide Gene; Complement C1q A Chain wt Allele; Complement Component 1, q Subcomponent, A Chain Gene;

NCIt definition : Human C1QA wild-type allele is located in the vicinity of 1p36.12 and is approximately 3 kb in length. This allele, which encodes complement C1q subcomponent subunit A protein, is involved in the initiation of complement-mediated immunity. Mutation of the gene is associated with complement component C1q deficiency.;

GenBank Accession Number : AF135157;

Détails

Origin ID

C105380;

UMLS CUI

C3542415;

Automatic exact mappings (from CISMeF team)
- Complement component 1, q subcomponent, a chain [OMIM gene]
- complement C1q A chain [ORDO Gene]
OMIM relation
- Complement component 1, q subcomponent, a chain [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
- 1p36.12 [NCIt concept]
gene_is_element_in_pathway
- Chagas Disease Pathway [NCIt concept]
- Classical Complement Pathway [NCIt concept]
- Complement and Coagulation Cascade [NCIt concept]
- Prion Disease Pathway [NCIt concept]
- Systemic Lupus Erythematosus Pathway [NCIt concept]
gene_plays_role_in_process
- Complement Activation [NCIt concept]

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