Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | congenital disorder of glycosylation Iu | | ISO | AK1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:23109149 and PMID:28492532 | developmental and epileptic encephalopathy | | ISO | AK1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar | PMID:18469812 more ... | developmental and epileptic encephalopathy 31A | | ISO | AK1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epileptic encephalopathy more ... | ClinVar | PMID:18469812 more ... | early infantile epileptic encephalopathy | | ISO | AK1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar | PMID:18469812 more ... | genetic disease | | ISO | AK1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 | Hemolytic Anemia due to Adenylate Kinase Deficiency | | ISO | AK1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hemolytic anemia due to adenylate kinase deficiency | ClinVar | PMID:10233365 more ... | hereditary hemorrhagic telangiectasia | | ISO | AK1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar | PMID:15879500 more ... | primary coenzyme Q10 deficiency 7 | | ISO | AK1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | ClinVar | PMID:22368301 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia. | Abrusci P, etal., Exp Hematol. 2007 Aug;35(8):1182-9. |
| 2. | A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (Arg 107 --> Stop, CGA --> TGA) associated with chronic haemolytic anaemia. | Bianchi P, etal., Br J Haematol 1999 Apr;105(1):75-9. |
| 3. | Proteome analysis of skeletal muscle from obese and morbidly obese women. | Hittel DS, etal., Diabetes. 2005 May;54(5):1283-8. |
| 4. | Adenylate kinase 1 gene deletion disrupts muscle energetic economy despite metabolic rearrangement. | Janssen E, etal., EMBO J 2000 Dec 1;19(23):6371-81. |
| 5. | Resveratrol protects left ventricle by increasing adenylate kinase and isocitrate dehydrogenase activities in rats with myocardial infarction. | Lin JF, etal., Chin J Physiol. 2011 Dec 31;54(6):406-12. doi: 10.4077/CJP.2011.AMM097. |
| 6. | Electronic Transfer of Homolog Data | MGD and Homologene mouse data transfer |
| 7. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 8. | Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. | Mootha VK, etal., Cell 2003 Nov 26;115(5):629-40. |
| 9. | Proteomic profiling of non-obese type 2 diabetic skeletal muscle. | Mullen E and Ohlendieck K, Int J Mol Med. 2010 Mar;25(3):445-58. |
| 10. | Dynamics of nucleotide metabolism as a supporter of life phenomena. | Noma T J Med Invest. 2005 Aug;52(3-4):127-36. |
| 11. | Proteomic profiling reveals a severely perturbed protein expression pattern in aged skeletal muscle. | O'Connell K, etal., Int J Mol Med. 2007 Aug;20(2):145-53. |
| 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. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 14. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 15. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 16. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
| 17. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 18. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 19. | [Comparative proteomic analysis of cerebral cortex between middle cerebral artery occlusion rats and normal controls]. | Zhao XF, etal., Sheng Wu Gong Cheng Xue Bao. 2005 Nov;21(6):934-41. |
Additional References at PubMed
| PMID:198184 | PMID:1889815 | PMID:2542324 | PMID:3082971 | PMID:3863747 | PMID:6145740 | PMID:6177004 | PMID:6375655 | PMID:6687641 | PMID:7323947 | PMID:7444718 | PMID:7774911 |
| PMID:8075499 | PMID:8088777 | PMID:8799160 | PMID:8835533 | PMID:10349636 | PMID:10557075 | PMID:11006295 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:11390963 | PMID:11423996 |
| PMID:12003836 | PMID:12124227 | PMID:12379473 | PMID:12477932 | PMID:12562761 | PMID:12730234 | PMID:12904583 | PMID:14610273 | PMID:14625851 | PMID:14681479 | PMID:15489334 | PMID:15659712 |
| PMID:15689408 | PMID:16141072 | PMID:16141073 | PMID:16195390 | PMID:16790685 | PMID:17704060 | PMID:17973952 | PMID:18448421 | PMID:19008233 | PMID:19156695 | PMID:19333390 | PMID:19423573 |
| PMID:21267068 | PMID:21677750 | PMID:21873635 | PMID:22419736 | PMID:22560297 | PMID:22637533 | PMID:22673621 | PMID:23393595 | PMID:23447692 | PMID:24740601 | PMID:26514267 | PMID:26811378 |
| PMID:28190767 | PMID:28705898 | PMID:29382714 | PMID:30457570 | PMID:32325033 | PMID:32744313 | PMID:34192805 | PMID:36293380 | PMID:36417873 | PMID:36804949 | PMID:38187761 |
Genomics
Comparative Map Data
| Ak1 (Mus musculus - house mouse) |
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| AK1 (Homo sapiens - human) |
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| Ak1 (Rattus norvegicus - Norway rat) |
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| Ak1 (Chinchilla lanigera - long-tailed chinchilla) |
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| AK1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| AK1 (Canis lupus familiaris - dog) |
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| Ak1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| AK1 (Sus scrofa - pig) |
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| AK1 (Chlorocebus sabaeus - green monkey) |
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| Ak1 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Ak1
404 total Variants 
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