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: 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: 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: 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: C4329301
Disease: Anastomosing Hemangioma
Anastomosing Hemangioma 		disease Neoplasms Neoplastic Process 3 0.020 None 1.000 2 2019 2020
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.010 None 1.000 1 2020 2020
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.010 None 1.000 1 2020 2020
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: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.960 25 3 2010 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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.100 None 0.800 10 1 2010 2019
CUI: C0206736
Disease: Nevus, Blue
Nevus, Blue 		disease Neoplasms Neoplastic Process 17 1 0.090 None 1.000 9 2010 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.070 None 0.857 7 2008 2019
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.050 None 1.000 5 2018 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.050 None 0.800 5 2008 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: C0015302
Disease: External exotoses
External exotoses 		disease Musculoskeletal Diseases Disease or Syndrome 109 0.040 None 1.000 4 2018 2019
CUI: C1956089
Disease: Osteophyte
Osteophyte 		disease Musculoskeletal Diseases Disease or Syndrome 91 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: C0265985
Disease: Mongolian Spot
Mongolian Spot 		disease Neoplasms Neoplastic Process 5 3 0.040 None 1.000 4 2010 2019
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: 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: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.130 None 0.667 3 1 2018 2019
CUI: C0917799
Disease: Hypersomnia
Hypersomnia 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 70 7 0.020 None 1.000 2 2017 2019
CUI: C0039103
Disease: Synovitis
Synovitis 		disease Musculoskeletal Diseases Disease or Syndrome 197 0.020 None 1.000 2 2018 2019