POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1291557
Disease: Deficiency of lyase
Deficiency of lyase
0.020 Biomarker disease BEFREE Adrenocorticotropic hormone-stimulated steroid measurements were consistent with 17-OHD. 28008861 2017
CUI: C1291557
Disease: Deficiency of lyase
Deficiency of lyase
0.020 Biomarker disease BEFREE The measurement of basal and ACTH-stimulated steroids was consistent with the diagnosis of 17OHD. 18996963 2009