Variant "CARD8:p.Cys10*"
Search result: 1 record
Variant information
Gene:
CARD8 
Variant:
CARD8:p.Cys10* 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Juvenile Rheumatoid Arthritis (DOID_676)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P<0.05 
    Effect:
    CARD8 p.C10X polymorphism is associated with inflammatory activity in early rheumatoid arthritis.
    Reference:
    PMID19443463
    Title:
    CARD8 p.C10X polymorphism is associated with inflammatory activity in early rheumatoid arthritis.
    Species studied:
    Human
    Abstract:
    CARD8 and NLRP3 are constituents of the inflammasome which regulates interleukin 1beta production. The influence of polymorphisms in CARD8 and NLRP3 on rheumatoid arthritis (RA) susceptibility and severity were evaluated.