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: C0265974
Disease: Birthmark
Birthmark 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 1 0.020 None 1.000 2 2015 2016
CUI: C0266094
Disease: Congenital macrocheilia
Congenital macrocheilia 		disease Stomatognathic Diseases Congenital Abnormality 1 0.010 None 1.000 1 2018 2018
CUI: C0267024
Disease: Hypertrophy of lip
Hypertrophy of lip 		phenotype Stomatognathic Diseases Anatomical Abnormality 1 0.010 None 1.000 1 2018 2018
CUI: C0332972
Disease: Congenital vascular proliferation
Congenital vascular proliferation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1 0.010 None 1.000 1 2017 2017
CUI: C0349623
Disease: Primary Melanocytic Lesion of Meninges
Primary Melanocytic Lesion of Meninges 		disease Neoplasms; Nervous System Diseases Neoplastic Process 1 0.010 None 1.000 1 2010 2010
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: C3898089
Disease: Orbital Melanoma
Orbital Melanoma 		disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2018 2018
CUI: C0522035
Disease: Edema of the upper extremity
Edema of the upper extremity 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 1 1 0.100 None 0 1
CUI: C0346392
Disease: Nevus of choroid
Nevus of choroid 		disease Neoplasms Neoplastic Process 2 2 0.010 None 1.000 1 2 2019 2019
CUI: C1302793
Disease: Cutaneous vascular malformation
Cutaneous vascular malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 1 2017 2017
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: C0239340
Disease: Edema of lower extremity
Edema of lower extremity 		phenotype Pathological Conditions, Signs and Symptoms Finding 2 2 0.100 None 0 1
CUI: C0241665
Disease: Abnormal venous morphology
Abnormal venous morphology 		phenotype Anatomical Abnormality 2 1 0.100 None 0 1
CUI: C2673776
Disease: Vascular tortuosity
Vascular tortuosity 		phenotype Finding 2 1 0.100 None 0 1
CUI: C4024885
Disease: Macular hyperpigmented dermopathy
Macular hyperpigmented dermopathy 		disease Anatomical Abnormality 2 1 0.100 None 0 1
CUI: C4476886
Disease: Abnormal vena cava morphology
Abnormal vena cava morphology 		phenotype Anatomical Abnormality 2 1 0.100 None 0 1
CUI: C1274879
Disease: Port-wine stain with oculocutaneous melanosis
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: C4329301
Disease: Anastomosing Hemangioma
Anastomosing Hemangioma 		disease Neoplasms Neoplastic Process 3 0.020 None 1.000 2 2019 2020
CUI: C0027961
Disease: Nevus of Ota
Nevus of Ota 		disease Neoplasms Neoplastic Process 3 1 0.110 None 1.000 1 1 2016 2016
CUI: C1306247
Disease: Melanotic neurilemmoma
Melanotic neurilemmoma 		disease Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process 3 0.010 None 1.000 1 2010 2010
CUI: C0007933
Disease: Meibomian Cyst
Meibomian Cyst 		disease Neoplasms; Eye Diseases Disease or Syndrome 3 3 0.100 None 0 1
CUI: C1859882
Disease: Pigmentation of the sclera
Pigmentation of the sclera 		phenotype Finding 3 1 0.100 None 0 1
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: C0239833
Disease: Hand pain
Hand pain 		phenotype Sign or Symptom 4 0.010 None 1.000 1 2019 2019
CUI: C0241657
Disease: Abnormality of the vasculature
Abnormality of the vasculature 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases Finding 4 2 0.100 None 0 1