Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Dlst | Mouse | intellectual disability | | ISO | DLST (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability and mild | ClinVar | | Dlst | Mouse | oxoglutarate dehydrogenase deficiency | | ISO | DLST (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: 2 alpha ketoglutarate dehydrogenase deficiency | ClinVar | | Dlst | Mouse | Paragangliomas 7 | | ISO | DLST (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Molecular Pathway Annotations Click to see Annotation Detail View
RGD Manual Annotations
Imported Annotations - SMPDB
Imported Annotations - KEGG (archival)
Phenotype Annotations Click to see Annotation Detail View
Mammalian Phenotype
Disease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Biological Process
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Cellular Component
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Molecular Function
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Molecular Pathway Annotations
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Phenotype Annotations
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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. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 3. | 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. |
| 4. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 5. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 6. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
| 7. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 8. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 9. | The alpha-ketoglutarate dehydrogenase complex. | Sheu KF and Blass JP, Ann N Y Acad Sci. 1999;893:61-78. |
Additional References at PubMed
| PMID:8889548 | PMID:10349636 | PMID:10725249 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:12477932 | PMID:12904583 | PMID:14610273 | PMID:14681479 | PMID:15489334 | PMID:15782199 |
| PMID:16141072 | PMID:16141073 | PMID:17500595 | PMID:17626619 | PMID:17634366 | PMID:18614015 | PMID:19596066 | PMID:19660549 | PMID:21267068 | PMID:21374701 | PMID:21677750 | PMID:21873635 |
| PMID:22169199 | PMID:22496890 | PMID:23475850 | PMID:25706746 | PMID:26465331 | PMID:27113764 | PMID:27215380 | PMID:28130547 | PMID:28245920 | PMID:28369354 | PMID:28378742 | PMID:28611091 |
| PMID:29128334 | PMID:29199018 | PMID:29222160 | PMID:30457570 | PMID:30550785 | PMID:31042466 | PMID:32325033 | PMID:33601422 | PMID:36417873 | PMID:37142655 | PMID:37442135 | PMID:38355793 |
| PMID:38418556 |
Genomics
Comparative Map Data
| Dlst (Mus musculus - house mouse) |
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| DLST (Homo sapiens - human) |
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| Dlst (Rattus norvegicus - Norway rat) |
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| Dlst (Chinchilla lanigera - long-tailed chinchilla) |
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| DLST (Pan paniscus - bonobo/pygmy chimpanzee) |
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| DLST (Canis lupus familiaris - dog) |
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| Dlst (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| DLST (Sus scrofa - pig) |
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| DLST (Chlorocebus sabaeus - green monkey) |
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| Dlst (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Dlst
610 total Variants 
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