Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia
0.300 Biomarker disease GENOMICS_ENGLAND MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. 22354170 2012