Disease: Yao syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310620
Disease: Yao syndrome
Yao syndrome 		0.670 GeneticVariation disease BEFREE Some SAID-associated genes are located in chromosome 16, including familial Mediterranean fever gene (MEFV) and nucleotide-binding oligomerization domain 2 [NOD2] gene that are linked to Crohn's disease, Blau syndrome, and Yao syndrome. 31084224 2019
CUI: C4310620
Disease: Yao syndrome
Yao syndrome 		0.670 AlteredExpression disease BEFREE However, NOD2 transcript level and basal p38 mitogen-activated protein kinase (MAPK) activity were significantly elevated in PBMCs from IVS8<sup>+158</sup> YAOS patients. 29471675 2018
CUI: C4310620
Disease: Yao syndrome
Yao syndrome 		0.670 GeneticVariation disease BEFREE Yao syndrome (YAOS), formerly named NOD2-associated autoinflammatory disease, is a periodic disease characterized by fever, dermatitis, polyarthritis, distal extremity swelling, and gastrointestinal and sicca-like symptoms associated with specific NOD2 sequence variants. 30159790 2018
CUI: C4310620
Disease: Yao syndrome
Yao syndrome 		0.670 GeneticVariation disease BEFREE Granulomatous disease associated with NOD2 variants may be an intermediate form between Blau syndrome and NAID. 26164256 2015
CUI: C4310620
Disease: Yao syndrome
Yao syndrome 		0.670 GeneticVariation disease UNIPROT Fifty-four of the 67 carriers of NOD2 variants had NAID, which has a genotype profile that is somewhat different from Crohn's disease. 26070941 2015
CUI: C4310620
Disease: Yao syndrome
Yao syndrome 		0.670 GeneticVariation disease BEFREE Fifty-four of the 67 carriers of NOD2 variants had NAID, which has a genotype profile that is somewhat different from Crohn's disease. 26070941 2015
CUI: C4310620
Disease: Yao syndrome
Yao syndrome 		0.670 GeneticVariation disease BEFREE The characteristic clinical phenotype, notably dermatitis, coupled with certain NOD2 variants constitutes a new autoinflammatory disease entity, which we have named as NOD2-associated autoinflammatory disease. 23102769 2013
CUI: C4310620
Disease: Yao syndrome
Yao syndrome 		0.670 GeneticVariation disease BEFREE The NOD2 variants located in the leucine-rich repeat (LRR) region are susceptible to Crohn disease, and the variants in the nucleotide-binding domain (NBD) and in between the NBD and LRR are associated with Blau syndrome and NAID, respectively. 23352252 2013
CUI: C4310620
Disease: Yao syndrome
Yao syndrome 		0.670 GeneticVariation disease UNIPROT A new category of autoinflammatory disease associated with NOD2 gene mutations. 21914217 2011
CUI: C4310620
Disease: Yao syndrome
Yao syndrome 		0.670 Biomarker disease CTD_human
CUI: C4310620
Disease: Yao syndrome
Yao syndrome 		0.670 SusceptibilityMutation disease CLINVAR