Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | ISO | ADARB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | Axenfeld-Rieger syndrome type 3 | | ISO | ADARB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 | ClinVar | PMID:11170889 and PMID:21681106 | cataract 9 multiple types | | ISO | ADARB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cataract 9 multiple types | ClinVar | PMID:28492532 | developmental and epileptic encephalopathy 30 | | ISO | ADARB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 30 | ClinVar | PMID:28492532 and PMID:8596935 | genetic disease | | ISO | ADARB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | homocystinuria | | ISO | ADARB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA more ... | ClinVar | PMID:10338090 more ... | microcephaly | | ISO | ADARB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures | | ISO | ADARB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia more ... | ClinVar | PMID:25741868 more ... | Neurodevelopmental Disorders | | ISO | ADARB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | primary ciliary dyskinesia | | ISO | ADARB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary ciliary dyskinesia | ClinVar | PMID:28492532 | progressive myoclonus epilepsy | | ISO | ADARB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar | PMID:28492532 and PMID:8596935 | syndromic intellectual disability | | ISO | ADARB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic intellectual disability | ClinVar | PMID:25741868 and PMID:32220291 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | TDP-43 pathology in sporadic ALS occurs in motor neurons lacking the RNA editing enzyme ADAR2. | Aizawa H, etal., Acta Neuropathol. 2010 Jul;120(1):75-84. doi: 10.1007/s00401-010-0678-x. Epub 2010 Apr 7. |
| 2. | Acute spinal cord injury persistently reduces R/G RNA editing of AMPA receptors. | Barbon A, etal., J Neurochem. 2010 Jul;114(2):397-407. doi: 10.1111/j.1471-4159.2010.06767.x. Epub 2010 Apr 23. |
| 3. | Genetic mapping of 262 loci derived from expressed sequences in a murine interspecific cross using single-strand conformational polymorphism analysis. | Brady KP, etal., Genome Res 1997 Nov;7(11):1085-93. |
| 4. | A gene expression map of human chromosome 21 orthologues in the mouse. | Gitton Y, etal., Nature 2002 Dec 5;420(6915):586-90. |
| 5. | A-to-I editing of microRNAs: regulating the regulators? | Gommans WM Semin Cell Dev Biol. 2012 May;23(3):251-7. doi: 10.1016/j.semcdb.2011.09.018. Epub 2011 Oct 5. |
| 6. | Profound downregulation of the RNA editing enzyme ADAR2 in ALS spinal motor neurons. | Hideyama T, etal., Neurobiol Dis. 2012 Mar;45(3):1121-8. doi: 10.1016/j.nbd.2011.12.033. Epub 2011 Dec 28. |
| 7. | Point mutation in an AMPA receptor gene rescues lethality in mice deficient in the RNA-editing enzyme ADAR2. | Higuchi M, etal., Nature 2000 Jul 6;406(6791):78-81. |
| 8. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
| 9. | Electronic Transfer of Homolog Data | MGD and Homologene mouse data transfer |
| 10. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 11. | MGD IEA | MGD IEA |
| 12. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
| 13. | ADAR2-dependent RNA editing of AMPA receptor subunit GluR2 determines vulnerability of neurons in forebrain ischemia. | Peng PL, etal., Neuron. 2006 Mar 2;49(5):719-33. |
| 14. | Human chromosome 21 gene expression atlas in the mouse. | Reymond A, etal., Nature 2002 Dec 5;420(6915):582-6. |
| 15. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
| 16. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 17. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 18. | Hyperphagia-mediated obesity in transgenic mice misexpressing the RNA-editing enzyme ADAR2. | Singh M, etal., J Biol Chem. 2007 Aug 3;282(31):22448-59. Epub 2007 Jun 12. |
Additional References at PubMed
| PMID:8889548 | PMID:9143496 | PMID:10051316 | PMID:10349636 | PMID:10613844 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:12459255 | PMID:12477932 | PMID:12709013 | PMID:14610273 |
| PMID:14612560 | PMID:15939761 | PMID:16033648 | PMID:16141072 | PMID:16141073 | PMID:16369484 | PMID:16382140 | PMID:16602821 | PMID:16956888 | PMID:17369310 | PMID:17967808 | PMID:18430892 |
| PMID:18684997 | PMID:18799693 | PMID:19156214 | PMID:19325227 | PMID:19361536 | PMID:19420382 | PMID:20651031 | PMID:20826656 | PMID:21267068 | PMID:21467037 | PMID:21615684 | PMID:21632755 |
| PMID:21677750 | PMID:21788117 | PMID:21847096 | PMID:21873635 | PMID:22102833 | PMID:22284185 | PMID:22310477 | PMID:22645261 | PMID:22916266 | PMID:23139803 | PMID:23250437 | PMID:23323881 |
| PMID:23571754 | PMID:24025532 | PMID:24115583 | PMID:24440630 | PMID:24443933 | PMID:24608178 | PMID:25260591 | PMID:25582055 | PMID:26383032 | PMID:26669816 | PMID:26768488 | PMID:26817845 |
| PMID:27350567 | PMID:27893733 | PMID:28045133 | PMID:28126736 | PMID:28288114 | PMID:28395340 | PMID:28640668 | PMID:28874170 | PMID:29694894 | PMID:30287844 | PMID:30697154 | PMID:30945056 |
| PMID:31039163 | PMID:31138677 | PMID:31815657 | PMID:31941663 | PMID:31956894 | PMID:32169840 | PMID:33712600 | PMID:33983932 | PMID:36221913 | PMID:36527980 | PMID:36615779 | PMID:37100060 |
| PMID:38157956 |
Genomics
Comparative Map Data
| Adarb1 (Mus musculus - house mouse) |
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| ADARB1 (Homo sapiens - human) |
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| Adarb1 (Rattus norvegicus - Norway rat) |
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| Adarb1 (Chinchilla lanigera - long-tailed chinchilla) |
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| ADARB1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| ADARB1 (Canis lupus familiaris - dog) |
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| Adarb1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| ADARB1 (Sus scrofa - pig) |
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| ADARB1 (Chlorocebus sabaeus - green monkey) |
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| Adarb1 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Adarb1
4381 total Variants 
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