ADAR, adenosine deaminase RNA specific, 103

N. diseases: 256; N. variants: 32
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: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		disease Disease or Syndrome 2 13 0.600 None 1.000 10 13 2004 2016
CUI: C0745109
Disease: Macular hyperpigmentation
Macular hyperpigmentation 		phenotype Finding 2 0.100 None 0
CUI: C4024759
Disease: Macular hypopigmentation
Macular hypopigmentation 		phenotype Finding 2 0.100 None 0
CUI: C4024917
Disease: Congenital encephalopathy
Congenital encephalopathy 		disease Nervous System Diseases Congenital Abnormality 3 0.010 None 1.000 1 2019 2019
CUI: C4552243
Disease: Dyschromatosis
Dyschromatosis 		disease Congenital Abnormality 3 1 0.010 None 1.000 1 2017 2017
CUI: C4024895
Disease: Atrophy/Degeneration involving the caudate nucleus
Atrophy/Degeneration involving the caudate nucleus 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C0149614
Disease: Adnexal mass
Adnexal mass 		disease Female Urogenital Diseases and Pregnancy Complications Anatomical Abnormality 5 0.010 None 1.000 1 2014 2014
CUI: C0406811
Disease: Reticulate acropigmentation of Kitamura
Reticulate acropigmentation of Kitamura 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 5 5 0.010 None 1.000 1 2005 2005
CUI: C4024877
Disease: Hyperpigmented/hypopigmented macules
Hyperpigmented/hypopigmented macules 		phenotype Finding 5 1 0.100 None 0
CUI: C3489724
Disease: Aicardi-Goutieres Syndrome 2
Aicardi-Goutieres Syndrome 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 6 19 0.300 None 1.000 1 2012 2012
CUI: C1837251
Disease: Basal ganglia cysts
Basal ganglia cysts 		disease Disease or Syndrome 6 0.100 None 0
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 7 26 0.300 None 1.000 1 2012 2012
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 7 3 0.300 None 1.000 1 2012 2012
CUI: C1856983
Disease: Increased CSF interferon alpha
Increased CSF interferon alpha 		phenotype Finding 7 0.100 None 0
CUI: C1866180
Disease: Horizontal pendular nystagmus
Horizontal pendular nystagmus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 7 1 0.100 None 0
CUI: C4024229
Disease: Chronic CSF lymphocytosis
Chronic CSF lymphocytosis 		phenotype Finding 7 0.100 None 0
CUI: C4072900
Disease: Increased serum interferon-gamma level
Increased serum interferon-gamma level 		phenotype Finding 7 0.100 None 0
CUI: C4022417
Disease: Degeneration of the striatum
Degeneration of the striatum 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 9 0.100 None 0
CUI: C0795996
Disease: STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
STRIATONIGRAL DEGENERATION, INFANTILE (disorder) 		disease Nervous System Diseases Disease or Syndrome 10 1 0.300 None 1.000 1 2014 2014
CUI: C1291077
Disease: Abdominal bloating
Abdominal bloating 		phenotype Digestive System Diseases Sign or Symptom 10 0.010 None 1.000 1 2019 2019
CUI: C1833434
Disease: Multifocal cerebral white matter abnormalities
Multifocal cerebral white matter abnormalities 		phenotype Pathological Conditions, Signs and Symptoms Finding 10 0.100 None 0
CUI: C2750915
Disease: Basal ganglia gliosis
Basal ganglia gliosis 		phenotype Pathological Conditions, Signs and Symptoms Finding 10 0.100 None 0
CUI: C4022769
Disease: Small basal ganglia
Small basal ganglia 		phenotype Finding 10 0.100 None 0
CUI: C4023169
Disease: Moyamoya phenomenon
Moyamoya phenomenon 		disease Disease or Syndrome 10 0.100 None 0
CUI: C2930995
Disease: Dyschromatosis universalis hereditaria
Dyschromatosis universalis hereditaria 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2005 2005