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: C0008370
Disease: Cholestasis
Cholestasis
0.420 GeneticVariation disease BEFREE We identified a novel heterozygous nonsense mutation (c.2764T>C, Glu922Ter) in a case of PSIS without HPE who presented with neonatal hypoglycemia and cholestasis associated with GH, TSH, and ACTH deficiencies. 26529631 2016
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.420 AlteredExpression disease BEFREE The liver in cholestasis can express Met-enkephalin immunoreactivity (MEIR). 17692472 2008
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.420 Therapeutic disease CTD_human ACTH-(1-24) antagonizes the cholestatic and constipating effects of morphine. 3421781 1988
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.420 Biomarker disease HPO