|
Symbol Name ID |
Adar
adenosine deaminase, RNA-specific MGI:1889575 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Primary microcephaly |
Progressive microcephaly |
Increased CSF interferon alpha |
Moyamoya phenomenon |
Extrapyramidal muscular rigidity |
Spasticity |
Lower limb spasticity |
Spastic paraparesis |
Spastic paraplegia |
Spastic tetraparesis |
Spastic tetraplegia |
Difficulty walking |
Cerebellar calcifications |
Cerebral calcification |
Basal ganglia calcification |
Intracerebral periventricular calcifications |
CNS demyelination |
Leukodystrophy |
Delayed myelination |
Demyelinating peripheral neuropathy |
Hydrocephalus |
Ventriculomegaly |
Degeneration of the striatum |
Abnormal cerebral white matter morphology |
Hypoplasia of the corpus callosum |
Deep white matter hypodensities |
Multifocal cerebral white matter abnormalities |
Cerebral atrophy |
Leukoencephalopathy |
Porencephalic cyst |
Arrhinencephaly |
Cerebellar atrophy |
Brain atrophy |
CSF pleocytosis |
CSF lymphocytic pleiocytosis |
Chronic CSF lymphocytosis |
Abnormal pyramidal tract morphology |
Abnormality of extrapyramidal motor function |
Tremor |
Abnormal pyramidal sign |
Hemiplegia/hemiparesis |
Tetraparesis |
Tetraplegia |
Absent speech |
Loss of speech |
Irritability |
Self-mutilation |
Intellectual disability |
Intellectual disability, profound |
Hyperreflexia |
Dystonia |
Torsion dystonia |
Inability to walk |
Loss of ambulation |
Encephalopathy |
Progressive encephalopathy |
Headache |
Developmental regression |
Global developmental delay |
Severe global developmental delay |
Seizure |
| Disease(s) Associated with ADAR | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aicardi-Goutieres syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| dyschromatosis symmetrica hereditaria |
| Mouse Phenotypes | abnormal neural tube closure |
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| Availability | Mouse Genotype | |
| Adartm1b(EUCOMM)Wtsi/Adartm1b(EUCOMM)Wtsi | ||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/23/2024 MGI 6.23 |
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