GNAQ, G protein subunit alpha q, 2776

N. diseases: 219; N. variants: 7
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: C0220633
Disease: Uveal melanoma
Uveal melanoma 		disease Neoplasms; Eye Diseases Neoplastic Process 376 22 0.800 None 0.984 62 2 2008 2019
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.700 None 0.967 30 2 1989 2019
CUI: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome 		disease Neoplasms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 25 2 0.800 None 1.000 19 1 2013 2019
CUI: C0206736
Disease: Nevus, Blue
Nevus, Blue 		disease Neoplasms Neoplastic Process 17 1 0.090 None 1.000 9 2010 2019
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 46 10 0.660 None 1.000 6 1 2013 2020
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 40 13 0.660 limited 0.833 6 1 2016 2020
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.050 None 1.000 5 2018 2019
CUI: C0015302
Disease: External exotoses
External exotoses 		disease Musculoskeletal Diseases Disease or Syndrome 109 0.040 None 1.000 4 2018 2019
CUI: C0018916
Disease: Hemangioma
Hemangioma 		disease Neoplasms Neoplastic Process 256 24 0.140 None 1.000 4 3 2017 2019
CUI: C0206733
Disease: Strawberry nevus of skin
Strawberry nevus of skin 		disease Neoplasms Neoplastic Process 112 10 0.140 None 1.000 4 1 2014 2019
CUI: C0265985
Disease: Mongolian Spot
Mongolian Spot 		disease Neoplasms Neoplastic Process 5 3 0.040 None 1.000 4 2010 2019
CUI: C1956089
Disease: Osteophyte
Osteophyte 		disease Musculoskeletal Diseases Disease or Syndrome 91 0.040 None 1.000 4 2018 2019
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.230 None 1.000 3 2007 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.230 None 1.000 3 2007 2018
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		disease Neoplasms Neoplastic Process 297 33 0.030 None 1.000 3 2009 2018
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 185 8 0.030 None 1.000 3 1 2014 2020
CUI: C0235753
Disease: Congenital hemangioma
Congenital hemangioma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Neoplastic Process 5 0.330 moderate 0.667 3 2016 2019
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris 		disease Neoplasms; Eye Diseases Neoplastic Process 10 1 0.410 None 1.000 3 2010 2017
CUI: C0346390
Disease: Hemangioma of choroid
Hemangioma of choroid 		disease Neoplasms; Cardiovascular Diseases Neoplastic Process 4 2 0.130 None 1.000 3 2 2019 2019
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.020 None 1.000 2 2015 2017
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.020 None 1.000 2 2015 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.020 None 1.000 2 1 2017 2018
CUI: C0039103
Disease: Synovitis
Synovitis 		disease Musculoskeletal Diseases Disease or Syndrome 197 0.020 None 1.000 2 2018 2019
CUI: C0265316
Disease: Neurocutaneous Syndromes
Neurocutaneous Syndromes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 28 0.020 None 1.000 2 2015 2016
CUI: C0334448
Disease: Cellular Blue Nevus
Cellular Blue Nevus 		disease Neoplasms Neoplastic Process 9 0.020 None 1.000 2 2011 2016