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: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 2 2019 2019
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.020 None 1.000 2 2012 2016
CUI: C3898222
Disease: mucosal melanoma
mucosal melanoma 		disease Neoplastic Process 24 1 0.020 None 1.000 2 2014 2016
CUI: C0221505
Disease: Lesion of brain
Lesion of brain 		group Disease or Syndrome 188 9 0.010 None 1.000 1 1 2017 2017
CUI: C0239833
Disease: Hand pain
Hand pain 		phenotype Sign or Symptom 4 0.010 None 1.000 1 2019 2019
CUI: C0334431
Disease: Melanocytoma
Melanocytoma 		disease Neoplastic Process 18 3 0.010 None 1.000 1 1 2013 2013
CUI: C4725092
Disease: Advanced Uveal Melanoma
Advanced Uveal Melanoma 		disease Neoplastic Process 13 0.010 None 1.000 1 2011 2011
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision 		phenotype Finding 5 5 0.100 None 0 1
CUI: C0239105
Disease: Conjunctival telangiectasis
Conjunctival telangiectasis 		disease Disease or Syndrome 20 1 0.100 None 0
CUI: C0241665
Disease: Abnormal venous morphology
Abnormal venous morphology 		phenotype Anatomical Abnormality 2 1 0.100 None 0 1
CUI: C1705500
Disease: Flasher - visual manifestation
Flasher - visual manifestation 		phenotype Sign or Symptom 6 0.100 None 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		phenotype Finding 74 5 0.100 None 0 1
CUI: C1837785
Disease: Prominent superficial veins
Prominent superficial veins 		phenotype Finding 8 3 0.100 None 0 1
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		phenotype Finding 59 2 0.100 None 0
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 0 1
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease Congenital Abnormality 284 39 0.100 None 0 1
CUI: C1851789
Disease: Poor wound healing
Poor wound healing 		phenotype Finding 19 3 0.100 None 0 1
CUI: C1853237
Disease: Isolated cases
Isolated cases 		phenotype Finding 111 0.100 None 0
CUI: C1854510
Disease: Abnormality of the cranial nerves
Abnormality of the cranial nerves 		disease Anatomical Abnormality 17 2 0.100 None 0
CUI: C1859882
Disease: Pigmentation of the sclera
Pigmentation of the sclera 		phenotype Finding 3 1 0.100 None 0 1
CUI: C2673776
Disease: Vascular tortuosity
Vascular tortuosity 		phenotype Finding 2 1 0.100 None 0 1
CUI: C4020900
Disease: Abnormality of the upper limb
Abnormality of the upper limb 		phenotype Anatomical Abnormality 6 4 0.100 None 0
CUI: C4020969
Disease: Inflammatory abnormality of the eye
Inflammatory abnormality of the eye 		disease Disease or Syndrome 88 1 0.100 None 0
CUI: C4021977
Disease: Visceral angiomatosis
Visceral angiomatosis 		disease Disease or Syndrome 17 0.100 None 0
CUI: C4024885
Disease: Macular hyperpigmented dermopathy
Macular hyperpigmented dermopathy 		disease Anatomical Abnormality 2 1 0.100 None 0 1