Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Mucocutaneous Lymph Node Syndrome
|
0.890 | GeneticVariation | BEFREE | SNP rs28493229 in ITPKC was associated with KD and coronary artery complications. | 29214786 | 2018 | |||||
Mucocutaneous Lymph Node Syndrome
|
0.890 | GeneticVariation | BEFREE | Functional single-nucleotide polymorphisms (SNPs) in inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) (rs28493229) and caspase-3 (CASP3) (rs113420705; formerly rs72689236) are associated with susceptibility to Kawasaki's disease (KD). | 21987091 | 2013 | |||||
Mucocutaneous Lymph Node Syndrome
|
0.890 | GeneticVariation | BEFREE | The meta-analyses first revealed significant risk for CALs in KD patients carrying risk allele of rs11340705, and the association of rs28493229 with KD was not observed in the Han Chinese. | 23456091 | 2013 | |||||
Mucocutaneous Lymph Node Syndrome
|
0.890 | GeneticVariation | BEFREE | The inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene rs28493229 was recently found to be associated with the risk for KD in the Japanese population, suggesting that the ITPKC gene may contribute to KD susceptibility. | 22361738 | 2012 | |||||
Mucocutaneous Lymph Node Syndrome
|
0.890 | GeneticVariation | BEFREE | Recently, a single nucleotide polymorphism (SNP) of the inositol 1,4,5-triphosphate kinase C (ITPKC), rs28493229, was found to passively confer susceptibility for Kawasaki syndrome (KS) and subsequent coronary arterial lesions. | 22498790 | 2012 | |||||
Mucocutaneous Lymph Node Syndrome
|
0.890 | GeneticVariation | BEFREE | This meta-analysis reveals that the functional polymorphism rs28493229 in ITPKC significantly contributes to the risk of KD. | 23065250 | 2012 | |||||
Mucocutaneous Lymph Node Syndrome
|
0.890 | GeneticVariation | BEFREE | in a cohort from a population with the world's third highest incidence of KD, we demonstrated that the C-allele of ITPKC SNP rs28493229 is associated with KD susceptibility and BCG scar reactivation during the acute phase, although its frequency is lower than that in the Japanese cohort (22.6%), suggesting this SNP contributes to KD susceptibility through induced hyperimmune function reflected in the BCG reactivation. | 20805785 | 2011 | |||||
Mucocutaneous Lymph Node Syndrome
|
0.890 | GeneticVariation | GWASCAT | Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease. | 22081228 | 2011 | |||||
Mucocutaneous Lymph Node Syndrome
|
0.890 | GeneticVariation | BEFREE | Taken together, our results indicated that C-allele of ITPKC SNP rs284</span>93229 is associated with the susceptibility and aneurysm formation in KD patients in a Taiwanese population. | 21533171 | 2011 | |||||
Mucocutaneous Lymph Node Syndrome
|
0.890 | GeneticVariation | GWASDB | Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease. | 22081228 | 2011 | |||||
Mucocutaneous Lymph Node Syndrome
|
0.890 | GeneticVariation | BEFREE | In conclusion, we did not find a statistically significant association between the ITPKC gene SNP rs28493229 and KD or CALs in Taiwanese children. | 20045869 | 2010 |