Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome
0.010 GeneticVariation disease BEFREE Our findings support the concept that dysregulated eIF2α phosphorylation, whether decreased by mutation of the kinase (EIF2AK3) in Wolcott-Rallison syndrome or increased by mutation of the phosphatase (PPP1R15B), is deleterious to β-cells and other secretory tissues, resulting in diabetes associated with multisystem abnormalities. 26159176 2015