Disease: Eosinophilic esophagitis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0341106
Disease: Eosinophilic esophagitis
Eosinophilic esophagitis 		0.020 GeneticVariation disease BEFREE Recently, the rare pathogenic mutations in DHTKD1 and an increased H<sub>2</sub>O<sub>2</sub> production were linked to the genetic ethiology of Eosinophilic Esophagitis (EoE), a chronic allergic inflammatory esophageal disorder. 30847859 2019
CUI: C0341106
Disease: Eosinophilic esophagitis
Eosinophilic esophagitis 		0.020 GeneticVariation disease BEFREE These data identify a series of rare genetic variants implicating DHTKD1 and OGDHL in the genetic etiology of EoE and underscore a potential pathogenic role for mitochondrial dysfunction in EoE. 29669943 2018