Annotation Detail
Information
- Associated Genes
- NLRP1
- Associated Variants
-
NLRP3 p.Gln703Lys (p.Q703K)
(
ENST00000391827.3,
ENST00000391828.8,
ENST00000474792.2,
ENST00000336119.8,
ENST00000348069.7,
ENST00000366496.7,
ENST00000643234.2,
ENST00000697350.1,
ENST00000697408.2 )
NLRP3 p.Gln703Lys (p.Q703K) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 ) - Associated Disease
- celiac disease
- Source Database
- DisGeNET
- Description
- The missense variation Q705K in CIAS1/NALP3/NLRP3 gene and an NLRP1 haplotype are associated with celiac disease.
- Pubmed
- 21245836
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00263847385068233
- Year of publication
- 2011
Drugs