Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1290884
Disease: Inflammatory disorder
Inflammatory disorder
0.020 GeneticVariation group BEFREE Mice deficient in SHANK-associated RH domain-interacting protein (SHARPIN), a component of the linear ubiquitin chain assembly complex (LUBAC), develop a spontaneous inflammatory disorder with pathologic hallmarks similar to atopic dermatitis and psoriasis in humans. 30038386 2019
CUI: C1290884
Disease: Inflammatory disorder
Inflammatory disorder
0.020 GeneticVariation group BEFREE Mice with mutations in SHANK-associated RH domain interactor (Sharpin) develop a hypereosinophilic auto-inflammatory disease known as chronic proliferative dermatitis. 28094869 2017