NLRC4 wt Allele

Preferred Label : NLRC4 wt Allele;

NCIt synonyms : CLANB; CLANC; CLAND; CARD12; AIFEC; NLR Family CARD Domain Containing 4 wt Allele; NOD-Like Receptor C4 Gene; Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat and CARD Domain Containing 4 Gene; UNQ6189/PRO20215; CLR2.1; IPAF; Caspase Recruitment Domain Family, Member 12 Gene; CLAN; NLR Family, CARD-Containing 4 Gene; CLAN1; FCAS4; CLANA;

NCIt definition : Human NLRC4 wild-type allele is located in the vicinity of 2p22.3 and is approximately 41 kb in length. This allele, which encodes NLR family CARD domain-containing protein 4, plays a role in immunity and apoptosis. Mutation of the gene is associated with familial cold autoinflammatory syndrome 4 and autoinflammation with infantile enterocolitis.;

NCI Metathesaurus CUI : CL1413181;

GenBank Accession Number : AF376061;

Details

Origin ID

C175711;

UMLS CUI

C5444422;

Automatic exact mappings (from CISMeF team)
- Autoinflammation with infantile enterocolitis [OMIM Phenotype]
- Clans [UNESCO concept]
- Familial cold autoinflammatory syndrome 4 [OMIM Phenotype]
- NLR family CARD domain containing 4 [ORDO Gene]
- NLRC4-related familial cold autoinflammatory syndrome [ORDO Disease]
- Nlr family, caspase recruitment domain-containing 4 [OMIM gene]
OMIM relation
- Nlr family, caspase recruitment domain-containing 4 [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_is_element_in_pathway
- NOD-Like Receptor Signaling Pathway [NCIt concept]
- Salmonella Pathway [NCIt concept]
- p53 Effector Pathway [NCIt concept]
gene_plays_role_in_process
- Caspase Activation [NCIt concept]
- Immune System Process [NCIt concept]
- Immunity [NCIt concept]
- Inflammatory Response [NCIt concept]

Keyword's position in hierarchy(ies) :

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