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: 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: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.700 None 0.967 30 2 1989 2019
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: 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: C0346388
Disease: Malignant melanoma of choroid
Malignant melanoma of choroid
disease Neoplasms; Eye Diseases Neoplastic Process 27 5 0.400 None 1.000 2 2010 2013
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
Port-wine stain with oculocutaneous melanosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases Congenital Abnormality 3 0.320 None 1.000 2 2016 2019
CUI: C3838883
Disease: Phakomatosis cesioflammea
Phakomatosis cesioflammea
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases Congenital Abnormality 2 0.300 None 1.000 1 2016 2016
CUI: C0001925
Disease: Albuminuria
Albuminuria
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 76 59 0.300 None 1.000 1 2005 2005
CUI: C2931029
Disease: Nevi flammei, familial multiple
Nevi flammei, familial multiple
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.300 None 1.000 1 2013 2013
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.300 None 1.000 1 1998 1998
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 281 50 0.300 None 1.000 1 2005 2005
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.300 None 1.000 1 1998 1998
CUI: C0086432
Disease: Hyalinosis, Segmental Glomerular
Hyalinosis, Segmental Glomerular
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 28 0.300 None 1.000 1 2005 2005
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders
group Hemic and Lymphatic Diseases Disease or Syndrome 267 31 0.300 None 1.000 1 1997 1997
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 507 248 0.300 None 0
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: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group Cardiovascular Diseases Disease or Syndrome 512 509 0.200 None 0
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: 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