Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
0.500 AlteredExpression disease BEFREE Here we show that methylation of a CpG island (CGI) within the MC1R gene can control expression of MC1R in melanoma. 30267482 2019
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
0.500 GeneticVariation disease BEFREE We also showed that MeLiM MC1R*2 allele, which determines black coat colour in pigs, predisposes significantly to melanoma. 17066441 2007
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
0.500 AlteredExpression disease BEFREE The melanocortin 1 receptor (MC1R) is overexpressed in most human melanoma metastases, thus making it a promising target for imaging and therapy of melanomas. 23116461 2012
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
0.500 GeneticVariation disease BEFREE Patients who live in areas of high ultraviolet radiation, and have many large naevi and the red hair colour phenotype, particularly those with the MC1R R/R genotype, have a high risk of melanoma above the threshold recommended for screening in other cancers. 30820946 2019
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
0.500 AlteredExpression disease BEFREE Overexpression of MC1R enhanced melanoma cell migration, whereas the opposite was true when MC1R levels were knocked down using small inhibitory RNAs. 22493442 2012
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
0.500 GeneticVariation disease BEFREE The effect of MC1R variants and sunscreen on the response of human melanocytes in vivo to ultraviolet radiation and implications for melanoma. 23962207 2013
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
0.500 GeneticVariation disease BEFREE Some genetic melanocortin-1 receptor (MC1R) variants responsible for human red hair color (RHC-variants) are consequently associated with increased melanoma risk. 30787281 2019
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
0.500 GeneticVariation disease BEFREE Variants of the melanocortin-1 receptor (MC1R) gene have been associated with fair pigmentation and melanoma risk, and a polymorphism of the Agouti Signaling Protein (ASIP) gene has been associated with dark pigmentation. 15998953 2005
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
0.500 GeneticVariation disease BEFREE Some MC1R variants are important determinants of early-onset melanoma. 22095472 2012
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
0.500 GeneticVariation disease BEFREE Individuals having melanoma in a visibly UV-damaged site were more likely to carry MC1R rs75570604 (odds ratio [OR] 2.5), 9q31.2 rs10816595 (OR 2.5), and MTAP rs869329 (OR 1.4); these same alleles were more common in MPM patients diagnosed ≤40 years. 31794051 2019
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
0.500 Biomarker disease HPO
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
0.500 GeneticVariation disease BEFREE MC1R variants contribute differently to melanoma risk in males and females. 29898205 2018
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
0.500 Biomarker disease BEFREE CDKN2A and MC1R analysis in amelanotic and pigmented melanoma. 19339902 2009
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
0.500 Biomarker disease BEFREE αMSH peptide sequences, evaluated for conjugation to the PEG-Cy5-C' dot nanoparticles, bound to MC1-R with high affinity and targeted melanoma in syngenetic and xenografted melanoma mouse models. 29058865 2018
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
0.500 GeneticVariation disease BEFREE Germline variants in the melanocortin-1 receptor (MC1R) gene are common in the population and confer moderate risk for melanoma and basal cell cancers across skin types. 31437847 2019
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
0.500 GeneticVariation disease BEFREE Germline variants in the melanocortin 1 receptor gene (MC1R) and the p16 gene (CDKN2A) are associated with an increased risk of cutaneous melanoma. 12883368 2003
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
0.500 Biomarker disease BEFREE Radionuclide Targeting: α-Melanocyte-stimulating hormone (α-MSH) is the most prominent peptide for targeting of melanoma tumors via the G protein-coupled melanocortin-1 receptor that is (over-)expressed by melanoma cells and melanocytes. 28578648 2017
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
0.500 Biomarker disease BEFREE The MC1R gene, suggested to be involved in Parkinson disease (PD) and melanoma, was sequenced in PD patients (n = 539) and controls (n = 265) from New York, and PD patients (n = 551), rapid eye movement sleep behavior disorder (RBD) patients (n = 351), and controls (n = 956) of European ancestry. 27131830 2016
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
0.500 GeneticVariation disease BEFREE Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants. 23384855 2013
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
0.500 GeneticVariation disease LHGDN Both malignant melanoma patients carried additional, seemingly pathogenic MC1R variants. 17496785 2007
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
0.500 GeneticVariation disease LHGDN In this tumor subtype, the risk for melanoma associated with MC1R is due to an increase in risk of developing melanomas with BRAF mutations. 16809487 2006
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
0.500 GeneticVariation disease BEFREE In conclusion, MC1R polymorphisms are a predisposing factor of melanoma in a southern European population with a relatively low incidence of the disease. 16601669 2006
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
0.500 Biomarker disease BEFREE We also review the current knowledge about the function of MC1R as a skin cancer, particularly melanoma, susceptibility gene and how it modulates the response of melanocytes to UVR. 24807163 2014
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
0.500 AlteredExpression disease BEFREE The melanocortin 1 receptor (MC1R) is highly expressed in the vast majority of melanomas, which makes it an attractive target for molecular imaging and radionuclide therapy. 28382155 2017
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
0.500 GeneticVariation disease BEFREE Melanocortin receptor 1 variants and melanoma risk: a study of 2 European populations. 19585506 2009