Nlr family, pyrin domain-containing 3

Preferred Label : Nlr family, pyrin domain-containing 3;

Symbol : NLRP3;

CISMeF acronym : NLRP3;

Type : Gene;

Alternative titles and symbols : Cias1 gene; Nacht domain-, leucine-rich repeat-, and pyd-containing protein 3; Pyrin domain-containing apaf1-like protein 1; Aii/avp receptor-like; CIAS1; CRYOPYRIN; NALP3; PYPAF1;

Ensembl ID : ENSG00000162711;

Prefixed ID : *606416;

Details

Origin ID

606416;

UMLS CUI

C1424250;

Automatic exact mappings (from CISMeF team)
- CIAS1 gene [LOINC component]
- NACHT, LRR and PYD Domains-Containing Protein 3 [NCIt concept]
- NLR family pyrin domain containing 3 [ORDO Gene]
- NLR family pyrin domain containing 3 [HGNC gene]
- NLRP3 Gene [NCIt concept]
- NLRP3 wt Allele [NCIt concept]
HGNC gene
- NLR family pyrin domain containing 3 [HGNC gene]
NCIt concept(s)
- NACHT, LRR and PYD Domains-Containing Protein 3 [NCIt concept]
- NLRP3 Gene [NCIt concept]
- NLRP3 wt Allele [NCIt concept]
ORDO concept(s)
- NLR family pyrin domain containing 3 [ORDO Gene]
Phenotypes related
- Cinca syndrome [OMIM Phenotype]
- Deafness, autosomal dominant 34, with or without inflammation [OMIM Phenotype]
- Familial cold autoinflammatory syndrome 1 [OMIM Phenotype]
- Keratoendotheliitis fugax hereditaria [OMIM Phenotype]
- Muckle-wells syndrome [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- CIAS1 gene [LOINC component]
- NLR family pyrin domain containing 3 [HGNC gene]
- NLRP3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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