Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.050 GeneticVariation disease BEFREE Conclusions PPNAD is a rare cause of ACTH-independent CS in childhood and may signal underlying CNC. 30875328 2019
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.050 GeneticVariation disease BEFREE Primary pigmented nodular adrenocortical disease (PPNAD) is the rarest form of ACTH-independent CS, and can be associated with endocrine and nonendocrine tumors, forming the Carney complex (CNC). 29909407 2018
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.050 Biomarker disease BEFREE ACTH = adrenocorticotropic hormone; BRG1 = Brahma-related gene 1; CABLES1 = CDK5 and ABL1 enzyme substrate 1; CD = Cushing disease; CNC = Carney complex; DICER1 = cytoplasmic endoribonuclease III; EGFR = epidermal growth factor receptor; GR = glucocorticoid receptor; IL = interleukin; MEN = multiple endocrine neoplasia; miRNA = microRNA; POMC = proopiomelanocortin; SSTR = somatostatin receptor; USP8 = ubiquitin-specific protease 8. 30084690 2018
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.050 Biomarker disease BEFREE Here, we describe the first case of a patient with CNC and adrenocorticotropic hormone (ACTH)-dependent Cushing disease due to a pituitary corticotroph adenoma. 28522647 2017
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.050 Biomarker disease BEFREE Adrenocorticotropic hormone independent Cushing's syndrome due to primary pigmented nodular adrenocortical disease (PPNAD) is a main characteristic of CNC. 16192737 2005