MC1R, melanocortin 1 receptor, 4157

N. diseases: 183; N. variants: 33
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0268495
Disease: Oculocutaneous albinism type 2
Oculocutaneous albinism type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 11 58 0.630 None 1.000 4 4 2003 2015
CUI: C2751295
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 		disease Finding 1 5 0.600 None 1.000 2 5 2007 2009
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.500 None 0.959 194 15 1996 2020
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		disease Neoplasms Neoplastic Process 557 91 0.500 None 1.000 21 4 1999 2015
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
GIANT PIGMENTED HAIRY NEVUS 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5 6 0.400 None 1.000 1 2012 2012
CUI: C0042900
Disease: Vitiligo
Vitiligo 		disease Skin and Connective Tissue Diseases Disease or Syndrome 395 249 0.350 None 1.000 6 1 2008 2019
CUI: C2314896
Disease: Familial Atypical Mole Melanoma Syndrome
Familial Atypical Mole Melanoma Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 30 3 0.310 None 1.000 3 2001 2014
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 451 4 0.310 None 1.000 2 2010 2010
CUI: C1318558
Disease: Congenital melanocytic nevus
Congenital melanocytic nevus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 7 5 0.310 None 1.000 1 2012 2012
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.310 None 1.000 1 1 2011 2011
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.310 None 1.000 1 1 2011 2011
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 408 4 0.300 None 1.000 1 2010 2010
CUI: C0751214
Disease: Hyperalgesia, Thermal
Hyperalgesia, Thermal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 154 0.300 None 1.000 1 2010 2010
CUI: C0751211
Disease: Hyperalgesia, Primary
Hyperalgesia, Primary 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 84 0.300 None 1.000 1 2010 2010
CUI: C0751212
Disease: Hyperalgesia, Secondary
Hyperalgesia, Secondary 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 88 0.300 None 1.000 1 2010 2010
CUI: C0751213
Disease: Tactile Allodynia
Tactile Allodynia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 114 0.300 None 1.000 1 2010 2010
CUI: C0458247
Disease: Allodynia
Allodynia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 84 0.300 None 1.000 1 2010 2010
CUI: C1368275
Disease: Pigmented Basal Cell Carcinoma
Pigmented Basal Cell Carcinoma 		disease Neoplasms Neoplastic Process 28 0.300 None 1.000 1 2008 2008
CUI: C0031911
Disease: Pigmentation
Pigmentation 		phenotype Organism Attribute 1 0.300 limited 0
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 507 248 0.200 None 1.000 34 4 2000 2016
CUI: C0027960
Disease: Nevus
Nevus 		disease Neoplasms Neoplastic Process 125 43 0.200 None 1.000 10 1 2004 2019
CUI: C0001349
Disease: Acute-Phase Reaction
Acute-Phase Reaction 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 24 0.200 None 1.000 1 2012 2012
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 136 24 0.160 None 1.000 7 3 2001 2015
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2507 257 0.150 None 1.000 6 2 2001 2019
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		disease Neoplasms Neoplastic Process 108 109 0.120 None 1.000 5 1 2006 2019