NLRP3, NLR family pyrin domain containing 3, 114548

N. diseases: 805; N. variants: 74
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0021368
Disease: Inflammation
Inflammation
0.310 Biomarker phenotype CTD_human Gene expression of NLRP3, CASPASE-1, CD3ɛ (pan T cells), TBX21 (T(h)1 cells) and RORC (T(h)17 cells) was positively, whereas GATA3 (T(h)2 cells) was inversely correlated with AT inflammation. 22325453 2012
CUI: C0021368
Disease: Inflammation
Inflammation
0.310 Biomarker phenotype LHGDN These data suggest CIAS1/cryopyrin may act as a key regulator of inflammation, induced to dampen NF-kappaB-dependent proinflammatory signals. 14662828 2003
CUI: C0021368
Disease: Inflammation
Inflammation
0.310 Biomarker phenotype CTD_human Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. 12032915 2002