Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 | | ISO | DGUOK (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11983456 more ... | Cognitive Dysfunction | | ISO | DGUOK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cognitive impairment | ClinVar | PMID:25741868 and PMID:28492532 | congenital disorder of glycosylation type IIb | | ISO | DGUOK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B | ClinVar | PMID:24716661 more ... | dystonia | | ISO | DGUOK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dystonia | ClinVar | PMID:16697227 more ... | genetic disease | | ISO | DGUOK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:12205643 more ... | Methylmalonyl-CoA Epimerase Deficiency | | ISO | DGUOK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III | ClinVar | PMID:16697227 more ... | mitochondrial DNA depletion syndrome | | ISO | DGUOK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome | ClinVar | PMID:25741868 and PMID:28492532 | mitochondrial DNA depletion syndrome 3 | | ISO | DGUOK (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11687800 more ... | Noncirrhotic Portal Hypertension 1 | | ISO | DGUOK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Portal hypertension more ... | ClinVar | PMID:11983456 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
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Mammalian Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
| 2. | The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. | Mandel H, etal., Nat Genet. 2001 Nov;29(3):337-41. |
| 3. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 4. | 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. |
| 5. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 6. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 7. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 8. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 9. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 10. | Severe mtDNA depletion and dependency on catabolic lipid metabolism in DGUOK knockout mice. | Zhou X, etal., Hum Mol Genet. 2019 Sep 1;28(17):2874-2884. doi: 10.1093/hmg/ddz103. |
Additional References at PubMed
| PMID:1664183 | PMID:6260206 | PMID:7918681 | PMID:10349636 | PMID:10455141 | PMID:11042159 | PMID:11076861 | PMID:11514946 | PMID:12363036 | PMID:12466305 | PMID:12477932 | PMID:14610273 |
| PMID:14651853 | PMID:14681479 | PMID:15782199 | PMID:16141072 | PMID:16141073 | PMID:16602821 | PMID:17967808 | PMID:18614015 | PMID:19221117 | PMID:21873635 | PMID:24940680 | PMID:27965370 |
| PMID:34169315 | PMID:36709400 |
Genomics
Comparative Map Data
| Dguok (Mus musculus - house mouse) |
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| DGUOK (Homo sapiens - human) |
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| Dguok (Rattus norvegicus - Norway rat) |
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| Dguok (Chinchilla lanigera - long-tailed chinchilla) |
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| DGUOK (Pan paniscus - bonobo/pygmy chimpanzee) |
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| DGUOK (Canis lupus familiaris - dog) |
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| Dguok (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| DGUOK (Sus scrofa - pig) |
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| DGUOK (Chlorocebus sabaeus - green monkey) |
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| Dguok (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Dguok
868 total Variants 
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