MC2R, melanocortin 2 receptor, 4158

N. diseases: 109; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.320 Biomarker disease PSYGENET Since this receptor is within a potential linkage region, ACTHR/MC-2 could be considered a candidate gene for BP. 7485268 1995
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.320 Biomarker disease BEFREE Investigation of the candidate genes ACTHR and golf for bipolar illness by the transmission/disequilibrium test. 9433545 1997
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.320 Biomarker disease BEFREE Since this receptor is within a potential linkage region, ACTHR/MC-2 could be considered a candidate gene for BP. 7485268 1995
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		0.310 GeneticVariation disease BEFREE No mutation was found in the NR0B1 and MC2R genes excluding congenital adrenal hypoplasia and FGD type 1. 21274326 2010
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		0.310 Biomarker disease GENOMICS_ENGLAND
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.300 Biomarker disease CTD_human Identification of genes potentially involved in the acquisition of androgen-independent and metastatic tumor growth in an autochthonous genetically engineered mouse prostate cancer model. 17013881 2007
CUI: C0600327
Disease: Toxic Shock Syndrome
Toxic Shock Syndrome 		0.200 Biomarker disease RGD Metallothionein and zinc metabolism in endotoxin shock rats. 2822467 1987
CUI: C4476786
Disease: Testicular adrenal rest tumor
Testicular adrenal rest tumor 		0.110 Biomarker disease HPO
CUI: C4476786
Disease: Testicular adrenal rest tumor
Testicular adrenal rest tumor 		0.110 Biomarker disease BEFREE The expression of adrenal cortex specific genes (CYP11B1, CYP11B2, and MC2R) in both TART and adrenal tissue is approximately 1000-10 000 times higher compared to that in testes samples. 25485724 2015
CUI: C0003123
Disease: Anorexia
Anorexia 		0.100 Biomarker disease HPO
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.100 Biomarker disease HPO
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.100 Biomarker disease HPO
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0020617
Disease: Hypoglycemic coma
Hypoglycemic coma 		0.100 Biomarker disease HPO
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.100 Biomarker disease HPO
CUI: C0034372
Disease: Quadriplegia
Quadriplegia 		0.100 Biomarker disease HPO
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.100 GeneticVariation disease BEFREE No mutation was found in the NR0B1 and MC2R genes excluding congenital adrenal hypoplasia and FGD type 1. 21274326 2010
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.100 GeneticVariation disease BEFREE This is the first report of FGD associated with a compound heterozygous mutation of C21Y and R146H in the MC2R gene. 17128565 2006
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.100 Biomarker disease BEFREE Familial Glucocorticoid deficiency (FGD), in which the adrenal cortex fails to produce glucocorticoids, was first shown to be caused by defects in the receptor for ACTH (MC2R) or its accessory protein (MRAP). 23279877 2013
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.100 GeneticVariation disease BEFREE Mutations in genes encoding either ACTH receptor or melanocortin 2 receptor accessory protein are responsible for the disease in about 50% of cases, named FGD type 1 and type 2, respectively. 21701219 2011
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.100 GeneticVariation disease BEFREE In several cases of familial glucocorticoid deficiency (FGD), referred to as FGD type 1, mutations have been described in the coding exon of the adrenocorticotropin receptor (melanonocortin receptor type 2, MC2R) gene. 12384787 2002
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.100 GeneticVariation disease BEFREE The objective of the study was to characterize a novel MC2R gene mutation in a compound heterozygous patient with FGD phenotype. 18492762 2008
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.100 GeneticVariation disease BEFREE FGD has been shown to segregate with mutations in the gene coding for ACTH receptor (MC2R) or melanocortin 2 receptor accessory protein (MRAP), whereas mutations in the triple A syndrome (AAAS, Allgrove syndrome) gene have been found in segregation with triple A syndrome. 18426811 2008