Nlr family, pyrin domain-containing 1

Preferred Label : Nlr family, pyrin domain-containing 1;

Symbol : NLRP1;

CISMeF acronym : NLRP1;

Type : Gene;

Alternative titles and symbols : Nacht domain-, leucine-rich repeat-, and pyd-containing protein 1; Death effector filament-forming ced4-like apoptosis protein; Nlrp1a, mouse, homolog of; NALP1; DEFCAP; KIAA0926; CARD7; NLRP1A;

Included titles and symbols : Defcap-L; Defcap-s;

Ensembl ID : ENSG00000091592;

Prefixed ID : *606636;

Details

Origin ID

606636;

UMLS CUI

C1826435;

Automatic exact mappings (from CISMeF team)
- NACHT, LRR and PYD Domains-Containing Protein 1 [NCIt concept]
- NLR family pyrin domain containing 1 [ORDO Gene]
- NLR family pyrin domain containing 1 [HGNC gene]
- NLRP1 Gene [NCIt concept]
- NLRP1 wt Allele [NCIt concept]
HGNC gene
- NLR family pyrin domain containing 1 [HGNC gene]
NCIt concept(s)
- NACHT, LRR and PYD Domains-Containing Protein 1 [NCIt concept]
- NLRP1 Gene [NCIt concept]
- NLRP1 wt Allele [NCIt concept]
ORDO concept(s)
- NLR family pyrin domain containing 1 [ORDO Gene]
Phenotypes related
- Autoinflammation with arthritis and dyskeratosis [OMIM Phenotype]
- Palmoplantar carcinoma, multiple self-healing [OMIM Phenotype]
- Respiratory papillomatosis, juvenile recurrent, congenital [OMIM Phenotype]
- Vitiligo-associated multiple autoimmune disease susceptibility 1 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- NLR family pyrin domain containing 1 [HGNC gene]
- NLRP1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients