Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206635
Disease: Myelolipoma
Myelolipoma
0.010 GeneticVariation disease BEFREE In family 2, all three female patients with adrenal myelolipomas were found to have a compound heterozygous mutation (c.1118A>T, p.H373L / c.1459_1467del9, p.D487_F489del) in CYP17A1. 30352423 2018