Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker HPO

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker BEFREE <sup>64</sup>Cu- and <sup>68</sup>Ga-labeled alpha-melanocyte-stimulating hormone (α-MSH) analogs targeting the melanocortin-1 receptor are promising positron emission tomography (PET) tracers for detecting melanoma, and the use of <sup>18</sup>F-labeling will further contribute to the detectability and availability. 31297699

2019

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation LHGDN Melanoma risk increased with the number of variant MC1R alleles carried by an individual (P = 0.003). 17072629

2007

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE Melanoma risk increased with the number of variant MC1R alleles carried by an individual (P = 0.003). 17072629

2007

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE Melanoma research would be greatly assisted by standardized classifications for MC1R variants and consistent reporting conventions. 21128237

2011

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants. 23384855

2013

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE Melanoma subtypes showed differences in the total number of MC1R variants (P = 0·028) and the number of red hair colour variants (P = 0·035). 23647022

2013

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE Melanoma-specific survival was inversely associated with carriage of MC1R variants in the absence of consensus alleles compared to carriage of at least one consensus allele (hazard ratio (HR) = 0.60; 95% confidence interval (CI): 0.40, 0.90). 25382380

2015

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE MC1R gene variants have previously been associated with red hair and fair skin color, moreover skin ultraviolet sensitivity and a strong association with melanoma has been demonstrated for three variant alleles that are active in influencing pigmentation: Arg151Cys, Arg160Trp, and Asp294His. 11179997

2001

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation LHGDN Melanocortin 1 receptor (MC1R) gene variants may increase the risk of melanoma in France independently of clinical risk factors and UV exposure. 14757863

2004

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation LHGDN MC1R and SLC45A2 variants had additive effects on melanoma risk, and after adjusting for pigmentation characteristics, the risk was persistent, even though both genes had a strong impact on pigmentation. 18683857

2008

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE MC1R and SLC45A2 variants had additive effects on melanoma risk, and after adjusting for pigmentation characteristics, the risk was persistent, even though both genes had a strong impact on pigmentation. 18683857

2008

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker CTD_human MC1R and TYR are associated with pigmentation, freckling and cutaneous sun sensitivity, well-recognized melanoma risk factors. 19578364

2009

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker BEFREE MC1R and TYR are associated with pigmentation, freckling and cutaneous sun sensitivity, well-recognized melanoma risk factors. 19578364

2009

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE Melanocortin receptor 1 variants and melanoma risk: a study of 2 European populations. 19585506

2009

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker BEFREE Melanocortin 1 receptor (MC1R) is involved in various functions, such as pigmentation, antipyretic and anti-inflammatory actions, development of melanoma, susceptibility to ultraviolet-induced sun damage, modification of oculocutaneous albinism, development of freckles, and mediation of female-specific mechanisms of analgesia. 21052032

2011

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE MC1R variants were traditionally thought to increase risk for melanoma secondary to intensified UV-mediated DNA damage in the setting of absent photoprotective eumelanin. 24258989

2014

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker BEFREE MC1R 'R' carriers showed histopathological signs of a more progressive disease than 'r' carriers did; however, tumor-infiltrating lymphocytes (TILs) in their second melanomas occurred significantly more frequently. 24660985

2014

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE MC1R's associations with BRAF V600E cases limited to individuals with darker phenotypes indicate that MC1R genotypes specifically provide information about BRAF V600E melanoma risk in those not considered high risk based on phenotype. 28842324

2017

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker BEFREE MC1R, a G-protein coupled receptor with high affinity for alpha-melanocyte stimulating hormone (αMSH), modulates pigment production in melanocytes from many species and is associated with human melanoma risk. 29316344

2018

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression BEFREE Melanocortin 1 receptor (MC1R) is specifically expressed in the majority of melanomas, a leading cause of death related to skin cancers. 29714486

2018

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE MC1R variants contribute differently to melanoma risk in males and females. 29898205

2018

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE MC1R R/R genotype was much more frequent in our amelanotic/hypomelanotic melanoma population (31.1% vs. 11%; P < 0.001; OR 26.4 vs. 5.9; control 1.0). 30680790

2019

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE A haplotype near ASIP, known to affect a similar spectrum of pigmentation traits as MC1R variants, conferred significant risk of CM (odds ratio (OR) = 1.45, P = 1.2 x 10(-9)) and BCC (OR = 1.33, P = 1.2 x 10(-6)). 18488027

2008

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE A low frequency of CDKN2A mutations and a high prevalence of MC1R variants characterize high-risk melanoma patients from Central Italy. 28146043

2017