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: C0014544
Disease: Epilepsy
Epilepsy
0.350 Biomarker disease BEFREE Since ACTH, the first line treatment for IS, has inconsistent efficacy and potential harsh side effects, PMX53, a potent complement C5ar1 antagonist, was suggested as a therapeutic alternative given its effects in other epilepsy models. 29636502 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.350 Biomarker disease BEFREE Infants with hypsarrhythmia were more likely to receive standard treatment (adrenocorticotropic hormone, prednisolone, or vigabatrin [odds ratio (OR) 2.6, 95% confidence interval (CI) 1.4-4.7] and preexisting epilepsy reduced the likelihood of standard treatment (OR 3.2, 95% CI 1.9-5.4). 29105055 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.350 GeneticVariation disease BEFREE Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice. 26961412 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.350 Therapeutic disease CTD_human ACTH therapy successfully controlled epilepsy and electroencephalograms were normalized. 20708863 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.350 Biomarker disease BEFREE IS is one of the few seizure syndromes that can be alleviated by adrenocorticotropic hormone (ACTH) or glucocorticoids (GCs) that are considered effective drugs of choice. 20943324 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.350 Biomarker disease BEFREE ACTH therapy successfully controlled epilepsy and electroencephalograms were normalized. 20708863 2011