STING1 wt Allele

Preferred Label : STING1 wt Allele;

NCIt synonyms : MPYS; STING; MITA; NET23; Stimulator of Interferon Response cGAMP Interactor 1 wt Allele; ERIS; FLJ38577; SAVI; hMITA; hSTING; Transmembrane Protein 173 Gene; TMEM173;

NCIt definition : Human STING1 wild-type allele is located in the vicinity of 5q31.2 and is approximately 7 kb in length. This allele, which encodes stimulator of interferon genes protein, is involved in both signaling and immunity. Mutation of the gene is associated with infantile-onset STING-associated vasculopathy.;

GenBank Accession Number : NM_198282;

Détails

Origin ID

C101587;

UMLS CUI

C3538738;

Automatic exact mappings (from CISMeF team)
- CDGSH iron sulfur domain 2 [ORDO Gene]
- Cdgsh iron sulfur domain protein 2 [OMIM gene]
- STING [WHO-ART Preferred Term]
- STING-associated vasculopathy with onset in infancy [ORDO Disease]
- STING-associated vasculopathy with onset in infancy [DO Concept]
- Stimulator of interferon response cgamp interactor 1 [OMIM gene]
- Sting [MedDRA LLT]
- Sting (morphologic abnormality) [SNOMED CT concept]
- Sting-associated vasculopathy, infantile-onset [OMIM Phenotype]
- Stinging [MedDRA LLT]
- bites and stings [MeSH Descriptor]
- stimulator of interferon response cGAMP interactor 1 [ORDO Gene]
- sting, nos [SNOMED Notion]
- stings [MeSH concept]
False automatic mappings
- sting [Disease (Nov.)]
OMIM relation
- Stimulator of interferon response cgamp interactor 1 [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
- Cytosolic DNA-Sensing Pathway [NCIt concept]
- RIG-I-Like Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Immune Response Process [NCIt concept]
- Nucleocytoplasmic Transport [NCIt concept]
- Signal Transduction [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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