C9 wt Allele - CISMeF

Preferred Label : C9 wt Allele;

NCIt synonyms : ARMD15; Complement C9 wt Allele;

NCIt definition : Human C9 wild-type allele is located in the vicinity of 5p13.1 and is approximately 141 kb in length. This allele, which encodes complement component C9 protein, is involved in complement-mediated immunity. Mutation in the gene is associated with age-related macular degeneration 15 and C9 deficiency.;

NCI Metathesaurus CUI : CL1648298;

GenBank Accession Number : NM_001737;

Details

Origin ID

C178634;

UMLS CUI

C5550988;

Automatic exact mappings (from CISMeF team)
- Macular degeneration, age-related, 15 [OMIM Phenotype]
- age related macular degeneration 15 [DO Concept]
OMIM relation
- Complement component 9 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5p13.1 [NCIt concept]
gene_is_element_in_pathway
- Amoebiasis 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
- Activation of Membrane Attack Complex [NCIt concept]
- Complement Activation [NCIt concept]
- Complement-Dependent Cytotoxicity [NCIt concept]

Keyword's position in hierarchy(ies) :

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