Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker BEFREE Retrospective chart review of 75 hypertensive adults cured of CS (72 with ACTH-dependent CS; 3 with adrenal adenoma). 31721265

2020

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker BEFREE During investigation, an adrenocorticotropic hormone (ACTH) independent CS was identified and the possibility of an adrenocortical tumor was suggested. 30699069

2019

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 GeneticVariation BEFREE It is uncertain whether thymic neuroendocrine tumors (NET) associated with Cushing's syndrome (CS) produce corticotropin-releasing hormone (CRH) and adrenocorticotropin hormone (ACTH) and whether the thymus contains ACTH and/or CRH cells that could originate NET. 30502716

2019

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker BEFREE A diagnosis of ectopic ACTH-dependent CS was made. 28862247

2019

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 AlteredExpression BEFREE Preoperatively, incidentalomas + SH patients had larger tumors, higher ACTH, and DHEA-S but lower dexamethasone-suppressed serum cortisol levels than those with CS. 30259310

2019

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker BEFREE Investigations demonstrated adrenocorticotropic hormone-independent Cushing's syndrome with bilateral adrenal gland enlargement. 31362300

2019

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker BEFREE The management of patients with adrenocorticotropic hormone-independent Cushing's syndrome and bilateral adrenal masses is challenging. 31467526

2019

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 GeneticVariation BEFREE Sixty-three (24.8%) tumors produced ACTH and 11 of them (17.4%), representing 4.3% of the whole series, were associated with Cushing syndrome. 31264037

2019

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker BEFREE ACTH = adrenocorticotropic hormone; CS = Cushing syndrome; CT = computed tomography; DHEAS = dehydroepiandrosterone sulfate; HU = Hounsfield units; MRI = magnetic resonance imaging; UFC = urinary free cortisol. 30817193

2019

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker BEFREE Localization of ectopic ACTH-secreting tumours causing Cushing syndrome (ECS) is essential for clinical management, yet often difficult. 31066920

2019

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker 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
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker BEFREE Bilateral adrenocortical adenomas causing adrenocorticotropic hormone-independent Cushing's syndrome: A case report and review of the literature. 31119141

2019

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker BEFREE We observed a case of ACTH-dependent cyclic Cushing syndrome that was developed by exogenous glucocorticoids, possibly through a glucocorticoid positive-feedback loop. 30561712

2019

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker BEFREE SCLC-associated diabetes was related to EAS, which was an endogenous ACTH-dependent form of Cushing's syndrome with elevated ACTH and cortisol levels. 31183355

2019

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker BEFREE A bilateral inferior petrosal sinus sampling (BIPSS) performed during a trough phase was false positive for pituitary ACTH overproduction resulting in unnecessary transsphenoidal surgery while a second BIPSS performed during an active phase was indicative for ectopic CS. 31640675

2019

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker BEFREE We describe a patient with florid Cushing syndrome due to ectopic adrenocorticotropic hormone (ACTH) from a NET of colonic origin. 30314823

2019

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker BEFREE According to the role of adrenocorticotropic hormone (ACTH) in adrenal androgen secretion, it is not surprising that the levels of dehydroepiandrosterone, dehydroepiandrosterone-sulfate, and androstenedione (A4) are generally elevated or in the upper normal range in patients with ACTH-dependent CS. 31499501

2019

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker BEFREE Surgical intervention, aimed at removing the source of cortisol or adrenocorticotropic hormone (ACTH), is the optimal treatment in most cases of Cushing's syndrome. 30800267

2019

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker BEFREE All patients with CS had hormone test including morning plasma-free cortisol, 24-hour urine-free cortisol (24UFC), and plasma adrenocorticotropic hormone. 29266048

2019

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker BEFREE Cushing's signs and serum cortisol at 16.2 µg/dL with undetectable adrenocorticotropic hormone indicated adrenal Cushing's syndrome. 30880999

2019

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker BEFREE A markedly elevated serum cortisol, ACTH and urine free cortisol production supported the diagnosis of CS. 30115708

2018

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 GeneticVariation BEFREE Primary macronodular adrenal hyperplasia (PMAH), also known in the past as bilateral macronodular adrenalhyperplasia or adrenocorticotropin (ACTH)-independent macronodular adrenal hyperplasia, is a rare type of Cushing's syndrome (CS) and is associated with bilateralenlargement of the adrenal glands. 29279458

2018

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker BEFREE ACTH-secreting pulmonary carcinoids, like the corticotroph adenomas causing Cushing's disease, are often small and difficult to detect, and patients present with a gradual onset of the classical signs and symptoms of Cushing's syndrome, indistinguishable from the presentation of Cushing's disease. 29754641

2018

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker BEFREE Her physical examination and biochemical assessment revealed adrenocorticotropic hormone-independent Cushing syndrome. 29161416

2018

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker BEFREE For our study, we compared patients with ACTH-independent hypercortisolaemia (n = 25) with those with Cushing's syndrome (n = 19). 29952409

2018