Disease table of GLUCOCORTICOID DEFICIENCY OMIM ID: PS202200

Gene-disease associations table

Gene	Associated with GLUCOCORTICOID DEFICIENCY in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
NNT	ClinVar, OMIM, HUMSAVAR	HGNC link	5p12	1	PS202200
MC2R	ClinVar, OMIM, HUMSAVAR	HGNC link	18p11.21	1	PS202200
MRAP	ClinVar, OMIM	HGNC link	21q22.11	1	PS202200

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
MC2R	YES	5	SF1, FOXL2, CREB1, CREM, NR5A1	0

Interactions from BIOGRID - physical

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
MC2R	MRAP	Yes	1	MGRN1

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic

Interactions from STRING

Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
MC2R	MRAP	Yes	binding	0

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Interactions from manually curated literature

Gene1	Gene2	Direct interaction	More information
MC2R	MRAP	yes, they interact	They are in interaction. [UniProt]

KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)

REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)

GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GO	IC	Number of genes with the same GO	Genes
binding (GO:0005488)	0.18	3	NNT, MRAP, MC2R
protein binding (GO:0005515)	0.46	2	MRAP, MC2R

GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
biological regulation (GO:0065007)	0.39	3	NNT, MRAP, MC2R
regulation of biological process (GO:0050789)	0.45	3	NNT, MRAP, MC2R
single-organism process (GO:0044699)	0.48	3	NNT, MRAP, MC2R
regulation of cellular process (GO:0050794)	0.5	3	NNT, MRAP, MC2R
regulation of phosphate metabolic process (GO:0019220)	2.35	2	MRAP, MC2R
regulation of primary metabolic process (GO:0080090)	1.08	2	MRAP, MC2R
regulation of metabolic process (GO:0019222)	1.02	2	MRAP, MC2R
positive regulation of biosynthetic process (GO:0009891)	2.29	2	MRAP, MC2R
regulation of cellular biosynthetic process (GO:0031326)	1.38	2	MRAP, MC2R
positive regulation of cellular metabolic process (GO:0031325)	1.81	2	MRAP, MC2R
regulation of cellular metabolic process (GO:0031323)	1.07	2	MRAP, MC2R
regulation of purine nucleotide biosynthetic process (GO:1900371)	4.8	2	MRAP, MC2R
positive regulation of nucleotide metabolic process (GO:0045981)	4.85	2	MRAP, MC2R
positive regulation of metabolic process (GO:0009893)	1.74	2	MRAP, MC2R
positive regulation of cAMP biosynthetic process (GO:0030819)	5.35	2	MRAP, MC2R
positive regulation of cAMP metabolic process (GO:0030816)	5.25	2	MRAP, MC2R
regulation of cAMP biosynthetic process (GO:0030817)	5.01	2	MRAP, MC2R
positive regulation of phosphorus metabolic process (GO:0010562)	2.78	2	MRAP, MC2R
positive regulation of cellular biosynthetic process (GO:0031328)	2.3	2	MRAP, MC2R
positive regulation of nucleotide biosynthetic process (GO:0030810)	5.09	2	MRAP, MC2R
positive regulation of biological process (GO:0048518)	1.2	2	MRAP, MC2R
positive regulation of nucleobase-containing compound metabolic process (GO:0045935)	2.35	2	MRAP, MC2R
positive regulation of phosphate metabolic process (GO:0045937)	2.78	2	MRAP, MC2R
regulation of nucleobase-containing compound metabolic process (GO:0019219)	1.43	2	MRAP, MC2R
cellular process (GO:0009987)	0.26	2	NNT, MRAP
regulation of biosynthetic process (GO:0009889)	1.37	2	MRAP, MC2R
regulation of phosphorus metabolic process (GO:0051174)	2.35	2	MRAP, MC2R
single-organism cellular process (GO:0044763)	0.65	2	NNT, MRAP
regulation of nitrogen compound metabolic process (GO:0051171)	1.36	2	MRAP, MC2R
positive regulation of nitrogen compound metabolic process (GO:0051173)	2.29	2	MRAP, MC2R
regulation of cyclic nucleotide metabolic process (GO:0030799)	4.69	2	MRAP, MC2R
localization (GO:0051179)	1.4	2	NNT, MRAP
positive regulation of purine nucleotide metabolic process (GO:1900544)	4.85	2	MRAP, MC2R
regulation of purine nucleotide metabolic process (GO:1900542)	4.41	2	MRAP, MC2R
regulation of nucleotide biosynthetic process (GO:0030808)	4.79	2	MRAP, MC2R
positive regulation of cyclic nucleotide biosynthetic process (GO:0030804)	5.14	2	MRAP, MC2R
positive regulation of cyclic nucleotide metabolic process (GO:0030801)	5.05	2	MRAP, MC2R
positive regulation of purine nucleotide biosynthetic process (GO:1900373)	5.09	2	MRAP, MC2R
regulation of cyclic nucleotide biosynthetic process (GO:0030802)	4.85	2	MRAP, MC2R
regulation of nucleotide metabolic process (GO:0006140)	4.38	2	MRAP, MC2R
regulation of cAMP metabolic process (GO:0030814)	4.88	2	MRAP, MC2R
positive regulation of cellular process (GO:0048522)	1.3	2	MRAP, MC2R

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
positive regulation of purine nucleotide metabolic process (GO:1900544)	-	4.85	0.008	MRAP, MC2R
positive regulation of cAMP biosynthetic process (GO:0030819)	-	5.35	0.003	MRAP, MC2R
positive regulation of cAMP metabolic process (GO:0030816)	-	5.25	0.014	MRAP, MC2R
positive regulation of cyclic nucleotide biosynthetic process (GO:0030804)	-	5.14	0.004	MRAP, MC2R
regulation of cAMP metabolic process (GO:0030814)	-	4.88	0.041	MRAP, MC2R
positive regulation of cyclic nucleotide metabolic process (GO:0030801)	-	5.05	0.005	MRAP, MC2R
positive regulation of purine nucleotide biosynthetic process (GO:1900373)	-	5.09	0.004	MRAP, MC2R
positive regulation of nucleotide biosynthetic process (GO:0030810)	-	5.09	0.004	MRAP, MC2R
regulation of cyclic nucleotide biosynthetic process (GO:0030802)	-	4.85	0.045	MRAP, MC2R
regulation of glucose transport (GO:0010827)	NEW	5.12	0.027	MRAP, MC2R
regulation of cAMP biosynthetic process (GO:0030817)	-	5.01	0.007	MRAP, MC2R
regulation of cyclic nucleotide metabolic process (GO:0030799)	-	4.69	0.014	MRAP, MC2R
regulation of purine nucleotide biosynthetic process (GO:1900371)	-	4.8	0.011	MRAP, MC2R
positive regulation of nucleotide metabolic process (GO:0045981)	-	4.85	0.008	MRAP, MC2R
regulation of nucleotide biosynthetic process (GO:0030808)	-	4.79	0.011	MRAP, MC2R

GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GO	IC	Number of genes with the same GO	Genes
integral component of membrane (GO:0016021)	1.14	3	NNT, MRAP, MC2R
membrane (GO:0016020)	0.68	3	NNT, MRAP, MC2R
cell part (GO:0044464)	0.11	3	NNT, MRAP, MC2R
intracellular part (GO:0044424)	0.28	3	NNT, MRAP, MC2R
membrane part (GO:0044425)	0.95	3	NNT, MRAP, MC2R
intrinsic component of membrane (GO:0031224)	1.13	3	NNT, MRAP, MC2R
intracellular membrane-bounded organelle (GO:0043231)	0.6	2	NNT, MRAP
cytoplasmic part (GO:0044444)	0.82	2	NNT, MRAP
intracellular organelle part (GO:0044446)	0.81	2	NNT, MRAP
intracellular organelle (GO:0043229)	0.51	2	NNT, MRAP
plasma membrane (GO:0005886)	1.39	2	MRAP, MC2R
membrane-bounded organelle (GO:0043227)	0.47	2	NNT, MRAP
organelle (GO:0043226)	0.4	2	NNT, MRAP
organelle part (GO:0044422)	0.79	2	NNT, MRAP