rs2066844, NOD2

N. diseases: 54
Disease: Yao syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Yao syndrome
CUI: C4310620
Disease: Yao syndrome
0.810 GeneticVariation BEFREE All participants were genotyped for NOD2 variants; all YAOS patients were heterozygous for the NOD2 IVS8<sup>+158</sup> variant (IVS8<sup>+158</sup>) and four patients also carried a concurrent NOD2 R702W variant (IVS8<sup>+158</sup>/R702W haplotype). 29471675 2018
Yao syndrome
CUI: C4310620
Disease: Yao syndrome
0.810 GeneticVariation UNIPROT NOD2-associated autoinflammatory disease: a large cohort study. 26070941 2015
Yao syndrome
CUI: C4310620
Disease: Yao syndrome
0.810 GeneticVariation UNIPROT A new category of autoinflammatory disease associated with NOD2 gene mutations. 21914217 2011
Yao syndrome
CUI: C4310620
Disease: Yao syndrome
0.810 SusceptibilityMutation CLINVAR