Disease: Mucocutaneous Lymph Node Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.460 GeneticVariation disease BEFREE Six single-nucleotide polymorphisms (SNPs) in three loci were associated significantly with KD susceptibility (P<1.0 × 10<sup>-5</sup>), including the previously reported BLK locus (rs6993775, odds ratio (OR)=1.52, P=2.52 × 10<sup>-11</sup>). 28855716 2017
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.460 AlteredExpression disease BEFREE These associations include ERAP1, CCR1-CCR3, STAT4, KLRC4, GIMAP4, and TNFAIP3 in Behçet's disease; BLK and CD40 in Kawasaki disease; SERPINA1 and SEMA6A in antineutrophil cytoplasmic antibody associated vasculitides; IL12B and FCGR2A/ FCGR2A in Takayasu arteritis; and CECR1 in a newly defined vascular inflammatory syndrome associated with adenosine deaminase (ADA2) deficiency. 25405820 2015
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.460 GeneticVariation disease BEFREE A genome-wide association study (GWAS) identified polymorphisms in CD40, BLK, and FCGR2A as the susceptibility genes for KD. 25470559 2015
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.460 GeneticVariation disease BEFREE Genetic studies have identified several susceptibility genes for KD and its sequelae in different ethnic populations, including FCGR2A, CD40, ITPKC, FAM167A-BLK and CASP3, as well as genes influencing response to intravenous immunoglobulin (IVIG) and aneurysm formation such as FCGR3B, and transforming growth factor (TGF) β pathway genes. 24162006 2014
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.460 AlteredExpression disease BEFREE Decreased BLK expression in peripheral blood B cells may alter B cell function and predispose individuals to KD. 24023612 2013
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.460 Biomarker disease CTD_human We report two new loci, one at BLK (encoding B-lymphoid tyrosine kinase) and one at CD40, that are associated with Kawasaki disease at genome-wide significance (P < 5 × 10(-8)). 22446961 2012
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.460 GeneticVariation disease GWASDB A genome-wide association study identifies three new risk loci for Kawasaki disease. 22446962 2012
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.460 GeneticVariation disease BEFREE We report two new loci, one at BLK (encoding B-lymphoid tyrosine kinase) and one at CD40, that are associated with Kawasaki disease at genome-wide significance (P < 5 × 10(-8)). 22446961 2012