Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.040 Biomarker 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

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.040 Biomarker BEFREE The syndrome of familial adrenocorticotropin (ACTH) unresponsiveness is a rare form of primary adrenal insufficiency, usually without mineralocorticoid deficiency. 7758515

1995

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.040 AlteredExpression 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

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.040 Biomarker BEFREE Calcitonin, somatostatin and ACTH immunoreactive cells in a case of familial bilateral thyroid medullary carcinoma. 6126268

1982