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: 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: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 2 2019 2019
CUI: C0343082
Disease: Senile angioma
Senile angioma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 8 2 0.020 None 1.000 2 1 2019 2019
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.010 None 1.000 1 2019 2019
CUI: C0796176
Disease: STUVE-WIEDEMANN SYNDROME
STUVE-WIEDEMANN SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Disease or Syndrome 7 8 0.010 None 1.000 1 2019 2019
CUI: C0265950
Disease: Venous malformation
Venous malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 38 3 0.010 None 1.000 1 2019 2019
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand 		disease Musculoskeletal Diseases Disease or Syndrome 61 21 0.010 None 1.000 1 2019 2019
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: C0042769
Disease: Virus Diseases
Virus Diseases 		group Infections Disease or Syndrome 1471 42 0.010 None 1.000 1 2019 2019
CUI: C0239833
Disease: Hand pain
Hand pain 		phenotype Sign or Symptom 4 0.010 None 1.000 1 2019 2019
CUI: C0525041
Disease: Neurobehavioral Manifestations
Neurobehavioral Manifestations 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 77 3 0.010 None 1.000 1 2019 2019
CUI: C0338480
Disease: Common Migraine
Common Migraine 		disease Nervous System Diseases Disease or Syndrome 77 62 0.010 None 1.000 1 2019 2019
CUI: C2937220
Disease: Congenital abnormality of vein
Congenital abnormality of vein 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 39 7 0.110 None 1.000 1 1 2019 2019
CUI: C0015414
Disease: Eye Neoplasms
Eye Neoplasms 		group Neoplasms; Eye Diseases Neoplastic Process 24 0.010 None 1.000 1 2019 2019
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.010 None 1.000 1 2019 2019
CUI: C1314691
Disease: Age at menarche
Age at menarche 		phenotype Behavior and Behavior Mechanisms Finding 267 591 0.100 None 1.000 1 1 2019 2019
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 485 24 0.010 None 1.000 1 1 2019 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.040 None 1.000 4 2 2010 2018
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: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.020 None 1.000 2 1 2017 2018
CUI: C4725091
Disease: metastatic intraocular melanoma
metastatic intraocular melanoma 		disease Neoplasms; Eye Diseases Neoplastic Process 53 0.020 None 1.000 2 2013 2018
CUI: C0266094
Disease: Congenital macrocheilia
Congenital macrocheilia 		disease Stomatognathic Diseases Congenital Abnormality 1 0.010 None 1.000 1 2018 2018
CUI: C0431128
Disease: Papillary craniopharyngioma
Papillary craniopharyngioma 		disease Neoplasms Neoplastic Process 65 2 0.010 None 1.000 1 2018 2018