MC5R, melanocortin 5 receptor, 4161

N. diseases: 16; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease PSYGENET TDO2[CC]+MC5R[G, any]+MCHR2[GC] conferred an OR maximal for schizophrenia alone (4.84, p=0.005), carried by 8% of schizophrenia cases. 19502010 2009
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease BEFREE TDO2[CC]+MC5R[G, any]+MCHR2[GC] conferred an OR maximal for schizophrenia alone (4.84, p=0.005), carried by 8% of schizophrenia cases. 19502010 2009
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.310 GeneticVariation disease LHGDN Variations in the melanocortin 5 receptor gene are unlikely to confer susceptibility to bipolar disorder in this sample. 16314755 2005
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.310 GeneticVariation disease BEFREE Variations in the melanocortin 5 receptor gene are unlikely to confer susceptibility to bipolar disorder in this sample. 16314755 2005
CUI: C0001349
Disease: Acute-Phase Reaction
Acute-Phase Reaction 		0.200 Biomarker phenotype RGD Melanocortin receptors in rat liver cells: change of gene expression and intracellular localization during acute-phase response. 22183812 2012
CUI: C3888523
Disease: Autoimmune uveitis
Autoimmune uveitis 		0.030 Biomarker disease BEFREE This report demonstrates that obesity exacerbates autoimmune uveitis and inhibits the promotion of post-EAU regulatory immunity through the melanocortin 5 receptor. 31287586 2019
CUI: C3888523
Disease: Autoimmune uveitis
Autoimmune uveitis 		0.030 Biomarker disease BEFREE Tissue-specific production of MicroRNA-155 inhibits melanocortin 5 receptor-dependent suppressor macrophages to promote experimental autoimmune uveitis. 31177529 2019
CUI: C3888523
Disease: Autoimmune uveitis
Autoimmune uveitis 		0.030 Biomarker disease BEFREE MC5r and A2Ar Deficiencies During Experimental Autoimmune Uveitis Identifies Distinct T cell Polarization Programs and a Biphasic Regulatory Response. 27886238 2016
CUI: C0028754
Disease: Obesity
Obesity 		0.020 Biomarker disease BEFREE This report demonstrates that obesity exacerbates autoimmune uveitis and inhibits the promotion of post-EAU regulatory immunity through the melanocortin 5 receptor. 31287586 2019
CUI: C0042164
Disease: Uveitis
Uveitis 		0.020 AlteredExpression disease BEFREE PBMC from uveitis patients were assayed for MC5r expression on monocytes and A2Ar on T cells, and comparison between uveitis patients and healthy controls had no significant difference. 27886238 2016
CUI: C0042164
Disease: Uveitis
Uveitis 		0.020 Biomarker disease BEFREE We clinically scored the uveitis over time in B10.RIII, C57BL/6, and melanocortin 5 receptor knock-out (MC5r((-/-))) mice with experimental autoimmune uveitis (EAU) that were conjunctively injected with a naked DNA plasmid encoding ACTH1-17 at the time of EAU onset and three days later. 19426838 2009
CUI: C0028754
Disease: Obesity
Obesity 		0.020 GeneticVariation disease BEFREE Weaker associations were detected between the SNPs rs1541276 in the MC5R, rs1926065 in the MC3R genes and obesity (P = 0.04 and P = 0.03, respectively), and between SNPs rs2236700 in the MC5R, rs2118404 in the POMC, rs943003 in the ENPP1 genes and type 2 diabetes (P = 0.03, P = 0.02 and P = 0.02, respectively); these associations did not, however, remain significant after correction for multiple testing. 18551113 2008
CUI: C0011603
Disease: Dermatitis
Dermatitis 		0.010 AlteredExpression disease BEFREE In the skin of mice with dermatitis, melanocortin receptors (MC1R and MC5R) were expressed at the mRNA level and were distributed in the dermis. 31220451 2019
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration 		0.010 Biomarker disease BEFREE No MC was found in DD grade A, and MC III was not observed in DD grade B. MC I was found to significantly increase angular motion in the DD grade E group, and MC II could enlarge translational motion in the DD grade D group (all P < 0.05); MC III had the lowest segmental motion in both angular and translational motion; There was no statistical difference in angular and translational motion between MC I and II in all DD grade groups (all P > 0.05). 29572167 2018
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.010 Biomarker phenotype BEFREE <b>Conclusion:</b> The relative balance of reduced trigger and increased substrate underlies a multi-dimensional role of MC-II-157c in modulation of cardiac arrhythmia vulnerability associated with prolonged QT interval. 29046643 2017
CUI: C1560249
Disease: Adverse Event Associated with Cardiac Arrhythmia
Adverse Event Associated with Cardiac Arrhythmia 		0.010 Biomarker phenotype BEFREE <b>Conclusion:</b> The relative balance of reduced trigger and increased substrate underlies a multi-dimensional role of MC-II-157c in modulation of cardiac arrhythmia vulnerability associated with prolonged QT interval. 29046643 2017
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		0.010 Biomarker disease BEFREE <b>Conclusion:</b> The relative balance of reduced trigger and increased substrate underlies a multi-dimensional role of MC-II-157c in modulation of cardiac arrhythmia vulnerability associated with prolonged QT interval. 29046643 2017
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		0.010 GeneticVariation disease BEFREE We have identified single nucleotide polymorphisms (SNPs) with significant differences in allele frequencies between broilers and layers in each of the following six candidate genes: adrenergic, beta-2-, receptor, surface (ADRB2); melanocortin 5 receptor (MC5R); leptin receptor (LEPR), McKusick-Kaufman syndrome (MKKS), milk fat globule-EGF factor 8 protein (MFGE8) and adenylate kinase 1 (AK1). 22035006 2011
CUI: C0476254
Disease: Dyslexia
Dyslexia 		0.010 Biomarker disease BEFREE Along with already published biological evidence, MC5R, DYM and NEDD4L make attractive candidates for dyslexia susceptibility genes. 21060895 2010
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation disease BEFREE Weaker associations were detected between the SNPs rs1541276 in the MC5R, rs1926065 in the MC3R genes and obesity (P = 0.04 and P = 0.03, respectively), and between SNPs rs2236700 in the MC5R, rs2118404 in the POMC, rs943003 in the ENPP1 genes and type 2 diabetes (P = 0.03, P = 0.02 and P = 0.02, respectively); these associations did not, however, remain significant after correction for multiple testing. 18551113 2008
CUI: C0085160
Disease: Hidradenitis
Hidradenitis 		0.010 GeneticVariation disease BEFREE Variation of melanocortin 5 receptor was examined in patients with acne (n = 21), hidradenitis supprativa (n = 4), and sebaceous gland lesions comprising sebaceous nevi, adenomas, and hyperplasia (n = 13).No additional mutations were found. 11286624 2001
CUI: C1399793
Disease: skin fold (abnormality)
skin fold (abnormality) 		0.010 Biomarker disease BEFREE Linkages were observed between MC5R and BMI (p = 0.001), SF6 (p = 0.005), FM (p = 0.001), and RMR (p = 0.002), whereas associations were observed in females between MC5R and BMI (p = 0.003), and between MC4R and FM (p = 0.002) and %FAT (p = 0.004). 9392003 1997