Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014130
Disease: Endocrine System Diseases
Endocrine System Diseases
0.010 AlteredExpression group BEFREE Germline CYP17A1 genetic variants with altered CYP17A1 activity manifesting as various endocrinopathies are extremely rare; however, characterizing these variants provides critical insights into CYP17A1 protein structure and function. 29229304 2018