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: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.040 Biomarker disease BEFREE Associations of beta-endorphin with HVA and MHPG in the plasma of prepubertal boys: effects of familial drug abuse and antisocial personality disorder liability. 8804130 1996
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.040 Biomarker disease BEFREE The syndrome of familial adrenocorticotropin (ACTH) unresponsiveness is a rare form of primary adrenal insufficiency, usually without mineralocorticoid deficiency. 7758515 1995
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.040 AlteredExpression disease BEFREE The diagnosis was suspected as a likely cause of familial low renin hypertension and was confirmed by findings of reduced basal and ACTH-stimulated serum and urinary levels of cortisol and other 17-hydroxysteroids, together with hypergonadotropic hypogonadism in both 46,XY and 46,XX patients, and abnormally increased secretion of 17-desoxysteroids, such as progesterone, 11-deoxycorticosterone, and corticosterone. 2493025 1989
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.040 Biomarker disease BEFREE Calcitonin, somatostatin and ACTH immunoreactive cells in a case of familial bilateral thyroid medullary carcinoma. 6126268 1982