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: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		phenotype Finding 37 11 0.100 None 0
CUI: C1856983
Disease: Increased CSF interferon alpha
Increased CSF interferon alpha 		phenotype Finding 7 0.100 None 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		phenotype Finding 137 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype Finding 427 32 0.100 None 0
CUI: C4021570
Disease: Undetectable light- and dark-adapted electroretinogram
Undetectable light- and dark-adapted electroretinogram 		phenotype Finding 11 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: C4024229
Disease: Chronic CSF lymphocytosis
Chronic CSF lymphocytosis 		phenotype Finding 7 0.100 None 0
CUI: C4024759
Disease: Macular hypopigmentation
Macular hypopigmentation 		phenotype Finding 2 0.100 None 0
CUI: C4024877
Disease: Hyperpigmented/hypopigmented macules
Hyperpigmented/hypopigmented macules 		phenotype Finding 5 1 0.100 None 0
CUI: C4024895
Disease: Atrophy/Degeneration involving the caudate nucleus
Atrophy/Degeneration involving the caudate nucleus 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C4025579
Disease: Large beaked nose
Large beaked nose 		disease Anatomical Abnormality 13 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: C4082172
Disease: Porencephalic cyst
Porencephalic cyst 		disease Disease or Syndrome 28 2 0.100 None 0
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		phenotype Finding 140 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C0021704
Disease: Intelligence
Intelligence 		phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 1 1 2018 2018
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		phenotype Behavior and Behavior Mechanisms Sign or Symptom 421 120 0.010 None 1.000 1 2019 2019
CUI: C0022107
Disease: Irritable Mood
Irritable Mood 		phenotype Behavior and Behavior Mechanisms Finding 142 1 0.100 None 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		phenotype Behavior and Behavior Mechanisms Mental Process 147 14 0.100 None 0
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.030 None 1.000 3 2016 2019