Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | adrenoleukodystrophy | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar | PMID:28492532 | autistic disorder | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106, PMID:30208311 | autosomal hemophilia A | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Mild hemophilia A | ClinVar | PMID:29357978 | blood coagulation disease | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Abnormality of coagulation | ClinVar | PMID:1301932 more ... | cerebral palsy | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Cerebral palsy | ClinVar | PMID:25741868 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar more ... | ClinVar | PMID:10215414 more ... | genetic disease | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:19473423 more ... | hemophilia B | | ISO | RGD:1343567 | 8554872 | ClinVar more ... | ClinVar | PMID:10338101 more ... | hemorrhagic disease | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Abnormal bleeding | ClinVar | PMID:25741868, PMID:31064749 | immunodeficiency 33 | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 33 | ClinVar | PMID:25741868 | microcephaly | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | Splenomegaly | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Splenomegaly | ClinVar | PMID:25741868 | X-Linked Thrombophilia due to Factor VIII Defect | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: THROMBOPHILIA more ... | ClinVar | PMID:10404764 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Mutations of the factor VIII gene in thai hemophilia A patients. | Akkarapatumwong V, etal., Hum Mutat. 2000 Jan;15(1):117-8. |
| 2. | Elevated levels of FVIII:C within families are associated with an increased risk for venous and arterial thrombosis. | Bank I, etal., J Thromb Haemost. 2005 Jan;3(1):79-84. |
| 3. | WAG-F8(m1Ycb) rats harboring a factor VIII gene mutation provide a new animal model for hemophilia A. | Booth CJ, etal., J Thromb Haemost. 2010 Nov;8(11):2472-7. doi: 10.1111/j.1538-7836.2010.03978.x. |
| 4. | Effect of factor VIIIc levels in pediatric stroke patients. | Cangoz E, etal., Pediatr Hematol Oncol. 2004 Apr-May;21(3):255-60. |
| 5. | Folate deficiency-induced hyperhomocysteinemia attenuates, and folic acid supplementation restores, the functional activities of rat coagulation factors XII, X, and II. | Ebbesen LS and Ingerslev J, J Nutr. 2005 Aug;135(8):1836-40. |
| 6. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 7. | Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institution. | Guillet B, etal., Hum Mutat. 2006 Jul;27(7):676-85. |
| 8. | Secretion of coagulant factor VIII activity and antigen by in vitro cultivated rat liver sinusoidal endothelial cells. | Hellman L, etal., Br J Haematol. 1989 Nov;73(3):348-55. |
| 9. | Haemostatic abnormalities persist despite glycaemic improvement by insulin therapy in lean type 2 diabetic patients. | Knobl P, etal., Thromb Haemost. 1994 Jun;71(6):692-7. |
| 10. | An association of candidate gene haplotypes and bleeding severity in von Willebrand disease type 2A, 2B, and 2M pedigrees. | Kunicki TJ, etal., J Thromb Haemost. 2006 Jan;4(1):137-47. |
| 11. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 12. | NCBI rat LocusLink and RefSeq merged data October 15, 2003 | NCBI rat LocusLink and RefSeq merged data October 15, 2003 |
| 13. | A novel F8 -/- rat as a translational model of human hemophilia A. | Nielsen LN, etal., J Thromb Haemost. 2014 Aug;12(8):1274-82. doi: 10.1111/jth.12635. |
| 14. | Effect of dienogest on bleeding time, coagulation, fibrinolysis, and platelet aggregation in female rats. | Nobukata H, etal., Toxicol Lett. 1999 Jan 11;104(1-2):93-101. |
| 15. | Blood coagulation. | Norris LA, Best Pract Res Clin Obstet Gynaecol. 2003 Jun;17(3):369-83. |
| 16. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 17. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 18. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 19. | GOA pipeline | RGD automated data pipeline |
| 20. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 21. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 22. | The severe spontaneous bleeding phenotype in a novel hemophilia A rat model is rescued by platelet FVIII expression. | Shi Q, etal., Blood Adv. 2020 Jan 14;4(1):55-65. doi: 10.1182/bloodadvances.2019000944. |
| 23. | How it all starts: Initiation of the clotting cascade. | Smith SA, etal., Crit Rev Biochem Mol Biol. 2015;50(4):326-36. doi: 10.3109/10409238.2015.1050550. Epub 2015 May 28. |
| 24. | The F8(-/-) rat as a model of hemophilic arthropathy. | Sørensen KR, etal., J Thromb Haemost. 2016 Jun;14(6):1216-25. doi: 10.1111/jth.13328. Epub 2016 May 10. |
| 25. | Long-term expression of human coagulation factor VIII and correction of hemophilia A after in vivo retroviral gene transfer in factor VIII-deficient mice. | VandenDriessche T, etal., Proc Natl Acad Sci U S A. 1999 Aug 31;96(18):10379-84. |
| 26. | Sequence of the rat factor VIII cDNA. | Watzka M, etal., Thromb Haemost 2004 Jan;91(1):38-42. |
| 27. | Preferential consumption of coagulation factors I, V, and VIII in rat endotoxemia. | Yamaguchi K, etal., Shock. 2000 Nov;14(5):535-43. |
| 28. | [Study on changes of blood coagulation factors in rats with hemorrhagic shock]. | Zhang YJ, etal., Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2005 Feb;13(1):110-3. |
Genomics
