Glucocorticoid deficiency | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
FAMILIAL GLUCOCORTICOID DEFICIENCY	MONDO_0008733 361 C4054695 MONDO:0008733	CUX1	Unknown	39024449	GWAS catalog	Signaling by cytosolic FGFR1 fusion mutants Signaling by FGFR1 in disease Intra-Golgi traffic
		MC2R	Unknown	17128564 18492762 8069303	Disgenet, GWAS catalog, Orphanet	cAMP signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +7 more
		MRAP	Unknown	15654338 17893271 20427498	Disgenet, GWAS catalog, Orphanet	Cortisol synthesis and secretion Cushing syndrome
		MYL10	Unknown	39024449	GWAS catalog	Focal adhesion Adherens junction Leukocyte transendothelial migration +5 more
		NNT	Unknown	22634753	Disgenet, GWAS catalog, Orphanet	Nicotinate and nicotinamide metabolism Metabolic pathways Citric acid cycle (TCA cycle)
		STAR	Unknown	19773404	Orphanet	Ovarian steroidogenesis Aldosterone synthesis and secretion Cortisol synthesis and secretion +3 more
		TXNRD2	Unknown	24601690	Disgenet, GWAS catalog, Orphanet	Selenocompound metabolism Pathways in cancer Hepatocellular carcinoma +1 more
FAMILIAL GLUCOCORTICOID DEFICIENCY 1	MESH:C565974	MC2R	Unknown	—	CTD	cAMP signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +7 more
FAMILIAL GLUCOCORTICOID DEFICIENCY 1	MESH:C565974	NNT	Unknown	22634753	CTD	Nicotinate and nicotinamide metabolism Metabolic pathways Citric acid cycle (TCA cycle)
FAMILIAL GLUCOCORTICOID DEFICIENCY TYPE 1	C4049650	MC2R	Unknown	—	Disgenet	cAMP signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +7 more
		MRAP	Unknown	—	Disgenet	Cortisol synthesis and secretion Cushing syndrome
		NNT	Unknown	—	Disgenet	Nicotinate and nicotinamide metabolism Metabolic pathways Citric acid cycle (TCA cycle)
FAMILIAL GLUCOCORTICOID DEFICIENCY TYPE 2	C4049714	MRAP	Unknown	—	Disgenet	Cortisol synthesis and secretion Cushing syndrome
FAMILIAL GLUCOCORTICOID DEFICIENCY TYPE 2	C4049714	URB1	Unknown	—	Disgenet	—
GLUCOCORTICOID DEFICIENCY	C1955741	MC2R	Causal	—	Disgenet	cAMP signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +7 more
GLUCOCORTICOID DEFICIENCY	C1955741	MRAP	Unknown	—	Disgenet	Cortisol synthesis and secretion Cushing syndrome
GLUCOCORTICOID DEFICIENCY 1	202200 MONDO:0024536	MC2R	Causal	8094489 12213892 8636348 18407210 18492762 8227361	ClinVar, HPO	cAMP signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +7 more
GLUCOCORTICOID DEFICIENCY 2	607398 MESH:C564577 MONDO:0011826	MRAP	Causal	19558534 15654338	CTD, ClinVar, GWAS catalog, HPO	Cortisol synthesis and secretion Cushing syndrome
GLUCOCORTICOID DEFICIENCY 4	C3553587 MONDO:0013874	NNT	Causal	—	ClinVar, Disgenet, GenCC	Nicotinate and nicotinamide metabolism Metabolic pathways Citric acid cycle (TCA cycle)
GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY	614736 OMIM:614736	NNT	Unknown	—	CTD, HPO	Nicotinate and nicotinamide metabolism Metabolic pathways Citric acid cycle (TCA cycle)
GLUCOCORTICOID DEFICIENCY 5	C4540522 617825 MONDO:0040502	COMT	Unknown	—	Disgenet	Steroid hormone biosynthesis Tyrosine metabolism Metabolic pathways +4 more
GLUCOCORTICOID DEFICIENCY 5	C4540522 617825 MONDO:0040502	TXNRD2	Unknown	30237576 32476818	ClinVar, Disgenet, GWAS catalog, HPO	Selenocompound metabolism Pathways in cancer Hepatocellular carcinoma +1 more