Disease: Adrenal gland hypofunction ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.120 Biomarker phenotype BEFREE Thus, partial MCM4 deficiency results in a genetic syndrome of growth retardation with adrenal insufficiency and selective NK deficiency. 22354167 2012
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.120 GeneticVariation phenotype BEFREE In summary, we have identified what we believe to be the first human mutation in MCM4 and have shown that it is associated with adrenal insufficiency, short stature, and NK cell deficiency. 22354170 2012
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.120 Biomarker phenotype HPO