C4A wt Allele - CISMeF

Preferred Label : C4A wt Allele;

NCIt synonyms : C4, Rodgers Form Gene; C4AD; RG; CPAMD2; CO4; SLP, Mouse, Homolog of Gene; C4; SLP; Complement Component 4A (Rodgers Blood Group) wt Allele; C4S; C4A2; C4A3; C4A4; C4A6;

NCIt definition : Human C4A wild-type allele is located in the vicinity of 6p21.3 and is approximately 21 kb in length. This allele, which encodes complement C4-A protein, is involved in the innate immune response. The expression of this gene is associated with the expression of Rodgers blood group antigens. Mutation of the gene is associated with complement component C4A deficiency. Copy number variation and polymorphisms are associated with increased risk for systemic lupus erythematosus.;

NCI Metathesaurus CUI : CL512101;

GenBank Accession Number : NM_007293;

Details

Origin ID

C128858;

UMLS CUI

C4283853;

Automatic exact mappings (from CISMeF team)
- C4 certainty (qualifier value) [SNOMED CT concept]
- Complement component 4a [OMIM gene]
- Complement component 4a deficiency [OMIM Phenotype]
- complement C4A (Rodgers blood group) [ORDO Gene]
- complement C4B (Chido blood group) [ORDO Gene]
OMIM relation
- Complement component 4a [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
- 6p21.3 [NCIt concept]
gene_is_element_in_pathway
- Classical Complement Pathway [NCIt concept]
- Complement Pathway [NCIt concept]
- Complement and Coagulation Cascade [NCIt concept]
- Lectin Induced Complement Pathway [NCIt concept]
- Systemic Lupus Erythematosus Pathway [NCIt concept]
gene_plays_role_in_process
- Complement Activation [NCIt concept]
- Immunity [NCIt concept]

Keyword's position in hierarchy(ies) :

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