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: C0233702
Disease: Algophobia
Algophobia 		0.010 GeneticVariation disease BEFREE Presence of MC1R variant alleles predicted higher levels of dental fear and fear of pain. 27555332 2016
CUI: C0751772
Disease: REM Sleep Behavior Disorder
REM Sleep Behavior Disorder 		0.010 GeneticVariation disease BEFREE The present study does not support a role for the MC1R p.R160W and other variants in susceptibility for PD or RBD. 27131830 2016
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		0.010 Biomarker disease BEFREE We detected an accumulation of MC1R-positive basophils in nasal mucosa tissue of patients with AR 24 h after nasal allergen provocation. 27196703 2016
CUI: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex 		0.010 GeneticVariation disease BEFREE MC1R SNP R163Q was also significantly (P<0.001) associated with severe HTS. 26030184 2015
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		0.010 Biomarker phenotype 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
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		0.010 Biomarker disease 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
CUI: C3665593
Disease: Melanocytic nevus of skin
Melanocytic nevus of skin 		0.010 GeneticVariation disease BEFREE Development of a melanoma risk prediction model incorporating MC1R genotype and indoor tanning exposure: impact of mole phenotype on model performance. 25003831 2014
CUI: C0027533
Disease: Neck Neoplasms
Neck Neoplasms 		0.010 Biomarker group BEFREE BRAF and MC1R in melanoma: different in head and neck tumors? 23486431 2013
CUI: C2739810
Disease: Lentigo maligna melanoma
Lentigo maligna melanoma 		0.010 GeneticVariation disease BEFREE Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population. 23647022 2013
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.010 GeneticVariation disease BEFREE We report an unusual case of FGD without hyperpigmentation due to coexistent MC1R/MC2R mutations. 22337906 2012
CUI: C0334424
Disease: Nodular melanoma
Nodular melanoma 		0.010 GeneticVariation disease BEFREE We present a case of an amelanotic nodular melanoma occurring in a 26-year-old woman who carried a heterozygous (melancortin-1-receptor) MC1R 160R/W and tyrosinase (TYR) 402R/Q genotype and had a dark hair phenotype. 22497519 2012
CUI: C1332965
Disease: Congenital Mesoblastic Nephroma
Congenital Mesoblastic Nephroma 		0.010 Biomarker disease BEFREE The effect of germline MC1R genotype on development and severity of CMN led us to investigate potential broader effects on growth, revealing a role for MC1R in normal fetal development. 22572819 2012
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		0.010 GeneticVariation disease BEFREE An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W). 22337906 2012
CUI: C4725861
Disease: Metastatic Malignant Neoplasm in the Viscera
Metastatic Malignant Neoplasm in the Viscera 		0.010 GeneticVariation disease BEFREE Interestingly, all MC1R variants were associated with BRAFV600E and all cell lines from visceral metastases harboured BRAFV600E. 22493355 2012
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.010 GeneticVariation disease BEFREE Given the multiple relevant roles of MC1R, we studied whether the MC1R gene would be associated with susceptibility to major depressive disorder or with response to antidepressant treatment. 21052032 2011
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		0.010 AlteredExpression disease BEFREE These results demonstrate that UBE3A plays a role in MC1R transcriptional regulation which can contribute to the development of hypopigmentation in AS patients. 21733131 2011
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.010 GeneticVariation phenotype BEFREE Sequence polymorphisms of MC1R gene and their association with depression and antidepressant response. 21052032 2011
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus 		0.010 Biomarker disease BEFREE Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism. 21541274 2011
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.010 GeneticVariation disease BEFREE Given the multiple relevant roles of MC1R, we studied whether the MC1R gene would be associated with susceptibility to major depressive disorder or with response to antidepressant treatment. 21052032 2011
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		0.010 AlteredExpression disease BEFREE These results demonstrate that UBE3A plays a role in MC1R transcriptional regulation which can contribute to the development of hypopigmentation in AS patients. 21733131 2011
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		0.010 GeneticVariation disease BEFREE On the whole, DLBCL and FL risk were not related to genetic variation in MC1R, pigmentation or time spent outdoors. 20129839 2010
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		0.010 GeneticVariation disease BEFREE On the whole, DLBCL and FL risk were not related to genetic variation in MC1R, pigmentation or time spent outdoors. 20129839 2010
CUI: C0184567
Disease: Acute onset pain
Acute onset pain 		0.010 GeneticVariation phenotype BEFREE Previous work has found differences in acute pain perception, and response to analgesia in mice and humans with mutations or variants in MC1R. 20856883 2010
CUI: C0234251
Disease: Inflammatory pain
Inflammatory pain 		0.010 Biomarker phenotype BEFREE MC1R mutant females, and females overexpressing the endogenous MC1R antagonist, agouti signalling protein, had a reduced formalin-induced inflammatory pain response, and a delayed development of inflammation-induced hyperalgesia and allodynia. 20856883 2010
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 Biomarker phenotype BEFREE MC1R mutant females, and females overexpressing the endogenous MC1R antagonist, agouti signalling protein, had a reduced formalin-induced inflammatory pain response, and a delayed development of inflammation-induced hyperalgesia and allodynia. 20856883 2010