MC1R, melanocortin 1 receptor, 4157

N. diseases: 183; N. variants: 33
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage 		0.010 AlteredExpression disease BEFREE The results of western blotting suggested that the expressions of MC1R, phosphorylated-adenosine monophosphate-activated protein kinase (p-AMPK), and phosphorylated-TANK binding kinase 1 (p-TBK1) were increased and reached their peak points at 24 h following SAH. 31486022 2020
CUI: C0333128
Disease: Open comedone
Open comedone 		0.010 Biomarker disease BEFREE The MC1R gene did not seem to play a major role in determining the black head and neck in our crossbred goats. 31678151 2020
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		0.010 GeneticVariation phenotype BEFREE Activation of EDNRB compensates for MC1R loss of function, thereby reducing the risk of malignant transformation of these vulnerable melanocytes. 31505093 2020
CUI: C0004565
Disease: Melanoma, B16
Melanoma, B16 		0.010 Biomarker disease BEFREE The MC1R-specific targeting and imaging properties of <sup>203</sup>Pb-DOTA-GGNle-CycMSH<sub>hex</sub> were determined on B16/F1 and B16/F10 murine melanoma cells and in B16/F1 flank melanoma-, B16/F10 flank melanoma-, and B16/F10 pulmonary metastatic melanoma-bearing C57 mice. 30763112 2019
CUI: C0011603
Disease: Dermatitis
Dermatitis 		0.010 Biomarker disease BEFREE MC1R antagonist agouti-signaling protein inhibited spontaneous scratching in mice with dermatitis. 31220451 2019
CUI: C0014070
Disease: Encephalomyelitis
Encephalomyelitis 		0.010 Biomarker disease BEFREE Recently, melanocortin-1 receptor (Mc1r) activation by Nle4-D-Phe7-α-MSH (NDP-MSH) was shown to play a neuroprotective role in an experimental autoimmune encephalomyelitis (EAE) mouse model. 31660977 2019
CUI: C0749263
Disease: temporal pain
temporal pain 		0.010 GeneticVariation phenotype BEFREE All genotyped (17) MC1R variants were tested for association with heat pain temporal summation and sensitivity. 31834199 2019
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		0.010 Biomarker phenotype BEFREE These results indicate that the receptor is constitutively expressed by arterial ECs and provide evidence of a novel homeostatic function for MC1R, whose activation may participate in preventing/healing endothelial dysfunction or denudation in macrovascular arteries. 31050282 2019
CUI: C4725091
Disease: metastatic intraocular melanoma
metastatic intraocular melanoma 		0.010 Biomarker disease BEFREE Melanocortin 1 Receptor-Targeted α-Particle Therapy for Metastatic Uveal Melanoma. 30733316 2019
CUI: C0025218
Disease: Chloasma
Chloasma 		0.010 Biomarker disease BEFREE The fluorescence intensity in the skin from melasma was higher for MC1R, αMSH at epidermis as at melanocytes (P < 0.05). 29846953 2018
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.010 Biomarker group BEFREE Amplification of the Melanocortin-1 Receptor in Nephrotic Syndrome Identifies a Target for Podocyte Cytoskeleton Stabilization. 30356069 2018
CUI: C0162830
Disease: Dermatitis, Phototoxic
Dermatitis, Phototoxic 		0.010 GeneticVariation disease BEFREE MC1R variants associated with increased melanoma risk promote the production of photosensitizing pheomelanins as opposed to photoprotective eumelanins. 29622793 2018
CUI: C0206736
Disease: Nevus, Blue
Nevus, Blue 		0.010 GeneticVariation disease BEFREE Specifically, we identified a positive association between the "R" MC1R variants and visible vessels in nevi [p-value = .033, corrected using the FDR method for multiple comparisons (corrected p-value)], dots and globules in nevi (corrected p-value = .033), nevi with eccentric hyperpigmentation (corrected p-value = .033), a high degree of freckling (adj. p-value = .019), and an associative trend with presence of blue nevi (corrected p-value = .120). 28950052 2018
CUI: C0220650
Disease: Metastatic malignant neoplasm to brain
Metastatic malignant neoplasm to brain 		0.010 Biomarker disease BEFREE Both B16/F10 and M21 melanoma lesions could be easily imaged by positron emission tomography using <sup>68</sup>Ga-DOTA-GGNle-CycMSH<sub>hex</sub> The first-in-human images of melanoma brain metastases in patients demonstrated the clinical relevance of MC1R as a molecular target for melanoma imaging, highlighting the potential of <sup>68</sup>Ga-DOTA-GGNle-CycMSH<sub>hex</sub> as an MC1R-targeting melanoma imaging probe and underscoring the need to develop MC1R-targeting therapeutic agents for treating patients with metastatic melanoma. 30404861 2018
CUI: C0242966
Disease: Systemic Inflammatory Response Syndrome
Systemic Inflammatory Response Syndrome 		0.010 GeneticVariation disease BEFREE Thus, we hypothesized that MC1R single nucleotide polymorphisms (SNPs) would be associated with increased burn-induced SIRS and increased infectious complications. 30278967 2018
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		0.010 GeneticVariation disease BEFREE The discrepancies found in this study indicate the variant rs34090186 in the MC1R gene, some variants of which were reported to be related to increased risk of PD and melanoma, may play a risk role in ET, confirming a potential association between ET and PD. 30252209 2018
CUI: C4020969
Disease: Inflammatory abnormality of the eye
Inflammatory abnormality of the eye 		0.010 Biomarker disease BEFREE Preclinical studies were performed to determine whether two MC1r receptor agonists, PL-8177 and PL-8331, exhibit actions and efficacy similar to α-MSH in preventing and reversing intestinal and ocular inflammation. 30692924 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 GeneticVariation disease BEFREE A Common Variant in the MC1R Gene (p.V92M) is associated with Alzheimer's Disease Risk. 28059796 2017
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.010 GeneticVariation disease BEFREE Our results suggest that the MC1R gene could modify the AOO in Spanish HD patients and encourage the evaluation of loss-of-function MC1R polymorphisms in other HD populations with a higher frequency of these MC1R polymorphisms. 27924526 2017
CUI: C0036690
Disease: Septicemia
Septicemia 		0.010 Biomarker disease BEFREE Therapeutic targeting of MC1R may be beneficial for trauma patients at risk for complicated sepsis. 27488084 2017
CUI: C0243026
Disease: Sepsis
Sepsis 		0.010 Biomarker disease BEFREE Therapeutic targeting of MC1R may be beneficial for trauma patients at risk for complicated sepsis. 27488084 2017
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.010 GeneticVariation disease BEFREE We observed that a common MC1R variant p.V92M (rs2228479), not related to pigmentation traits, was present in 72 (14%) patients and 15 (9%) controls and confers increased risk of developing LOAD (OR: 1.99, 95% CI: 1.08-3.64, p = 0.026), especially in those patients whose genetic risk could not be explained by APOE genotype. 28059796 2017
CUI: C2930995
Disease: Dyschromatosis universalis hereditaria
Dyschromatosis universalis hereditaria 		0.010 Biomarker disease BEFREE Together, our results suggest that a novel SASH1/MAP2K2 crosstalk connects ERK1/2/CREB cascade with p53-POMC-MC1R cascade to cause hyperpigmentation phenotype of DUH. 28382689 2017
CUI: C0086445
Disease: Idiopathic Membranous Glomerulonephritis
Idiopathic Membranous Glomerulonephritis 		0.010 GeneticVariation disease BEFREE Four patients with congenital red hair color and nephrotic syndrome caused by idiopathic membranous nephropathy or focal segmental glomerulosclerosis were confirmed by gene sequencing to bear dominant-negative MC1R mutations. 27270328 2016
CUI: C0178782
Disease: Orofacial Pain
Orofacial Pain 		0.010 GeneticVariation phenotype BEFREE MC1R variants may influence orofacial pain perception and, in turn, predispose individuals to develop fears about pain. 27555332 2016