Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma
0.010 GeneticVariation disease BEFREE Of the six adrenocortical adenomas with CYP11B2 heterogeneity, three had aldosterone-regulating mutations (CACNA1D p.F747C, KCNJ5 p.L168R, ATP1A1 p.L104R) only in CYP11B2-positive regions, and one had two different mutations localized to two histologically distinct CYP11B2-positive regions (ATP2B3 p.L424_V425del, KCNJ5 p.G151R). 26765578 2016