IL1RN wt Allele

Preferred Label : IL1RN wt Allele;

NCIt synonyms : MVCD4; IL1F3; IL-1RN; IL-1ra; Interleukin 1 Receptor Antagonist wt Allele; DIRA; IRAP; IL1RA; MGC10430; ICIL-1RA; IL-1ra3;

NCIt definition : Human IL1RN wild-type allele is located in the vicinity of 2q14.2 and is approximately 27 kb in length. This allele, which encodes interleukin-1 receptor antagonist protein, plays a role in the regulation of interleukin-1-mediated signal transduction. Mutation or polymorphism of the gene is associated with susceptibility to microvascular complications of diabetes type 4, interleukin 1 receptor antagonist deficiency, increased risk of osteoporotic fractures and gastric cancer;

GenBank Accession Number : M55646;

Details

Origin ID

C98165;

UMLS CUI

C3273854;

Automatic exact mappings (from CISMeF team)
- Interleukin 1 receptor antagonist [OMIM gene]
- Interleukin 1 receptor, type I [OMIM gene]
- Leucyl-cystinyl aminopeptidase [OMIM gene]
- Microvascular complications of diabetes, susceptibility to, 4 [OMIM Phenotype]
- interleukin 1 receptor antagonist [ORDO Gene]
- interleukin 1 receptor antagonist protein [MeSH Descriptor]
- interleukin-1 receptor antagonist activity [GO term]
Currated CISMeF NLP mapping
- Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency [ICD-11 More detail]
- Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis [OMIM Phenotype]
- DIRA [MedDRA LLT]
- Deficiency of the interleukin-1 receptor antagonist [MedDRA Preferred Term]
- Sterile multifocal osteomyelitis with periostitis and pustulosis [ORDO Disease]
- Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) [SNOMED CT concept]
- deficiency of interleukin-1 receptor antagonist [MeSH Supplementary Concept]
- deficiency of interleukin-1 receptor antagonist [MeSH concept]
- deficiency of the interleukin 1 receptor antagonist [Disease (Nov.)]
OMIM relation
- Interleukin 1 receptor antagonist [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
- IL1-Mediated Signaling Pathway [NCIt concept]
- IL1R Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Proliferation Regulatory Process [NCIt concept]
- Cytokine Receptor Binding [NCIt concept]
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- Inflammatory Response [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Interleukin Signaling Process [NCIt concept]
- Negative Regulation of Interleukin Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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