Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | combined deficiency of vitamin K-dependent clotting factors 1 | | ISO | RGD:68554 | 8554872 | ClinVar Annotator: match by term: Vitamin K-dependent clotting factors more ... | ClinVar | PMID:28492532 | combined deficiency of vitamin K-dependent clotting factors 1 | | ISO | RGD:68554 | 8554872 | ClinVar Annotator: match by term: Vitamin K-dependent clotting factors more ... | ClinVar | PMID:20075945 | combined deficiency of vitamin K-dependent clotting factors 1 | | ISO | RGD:68554 | 8554872 | ClinVar Annotator: match by term: Vitamin K-dependent clotting factors more ... | ClinVar | PMID:17144668 | combined deficiency of vitamin K-dependent clotting factors 1 | | ISO | RGD:68554 | 8554872 | ClinVar Annotator: match by term: Vitamin k-dependent clotting factors more ... | ClinVar | | combined deficiency of vitamin K-dependent clotting factors 1 | | ISO | RGD:68554 | 8554872 | ClinVar Annotator: match by term: Vitamin K-dependent clotting factors more ... | ClinVar | PMID:16720838 | combined deficiency of vitamin K-dependent clotting factors 1 | | ISO | RGD:68554 | 8554872 | ClinVar Annotator: match by OMIM:277450 | ClinVar | PMID:11071668 | combined deficiency of vitamin K-dependent clotting factors 1 | | ISO | RGD:68554 | 8554872 | ClinVar Annotator: match by OMIM:277450 | ClinVar | PMID:15287948 | combined deficiency of vitamin K-dependent clotting factors 1 | | ISO | RGD:68554 | 8554872 | ClinVar Annotator: match by OMIM:277450 | ClinVar | PMID:10934213 more ... | hemorrhagic disease | | ISO | RGD:68554 | 8554872 | ClinVar Annotator: match by term: Hemorrhagic diathesis | ClinVar | | Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency | | ISO | RGD:68554 | 8554872 | ClinVar Annotator: match by term: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency | ClinVar | PMID:25741868, PMID:29175035 | Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency | | ISO | RGD:68554 | 8554872 | ClinVar Annotator: match by OMIM:610842 | ClinVar | PMID:17110937, PMID:9615107 | Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency | | ISO | RGD:68554 | 8554872 | ClinVar Annotator: match by OMIM:610842 | ClinVar | PMID:18800149 | Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency | | ISO | RGD:68554 | 8554872 | ClinVar Annotator: match by OMIM:610842 | ClinVar | PMID:17110937 | thrombocytopenia | | ISO | RGD:68554 | 8554872 | ClinVar Annotator: match by term: Thrombocytopenia | ClinVar | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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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Imported Annotations - SMPDB
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Molecular Pathway Annotations
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References
References - curated
| 1. | Angayarkanni N and Selvam R, Eur Urol. 1998;33(1):116-20. |
| 2. | Azuma K, etal., PLoS One. 2014 Feb 10;9(2):e88643. doi: 10.1371/journal.pone.0088643. eCollection 2014. |
| 3. | Brenner B, etal., Blood. 1998 Dec 15;92(12):4554-9. |
| 4. | Darghouth D, etal., Blood. 2006 Sep 15;108(6):1925-31. Epub 2006 May 23. |
| 5. | MGD and Homologene mouse data transfer |
| 6. | MGD data from the GO Consortium |
| 7. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
| 8. | Oldenburg J, etal., Thromb Haemost. 2000 Dec;84(6):937-41. |
| 9. | OMIM Disease Annotation Pipeline |
| 10. | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 11. | RGD automated import pipeline |
| 12. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 13. | RGD automated import pipeline for gene-chemical interactions |
| 14. | Rost S, etal., Br J Haematol. 2004 Aug;126(4):546-9. |
| 15. | Tie JK and Stafford DW, J Thromb Haemost. 2016 Feb;14(2):236-47. doi: 10.1111/jth.13217. Epub 2016 Jan 29. |
| 16. | Vanakker OM, etal., J Invest Dermatol. 2007 Mar;127(3):581-7. Epub 2006 Nov 16. |
Additional References at PubMed
| PMID:10349636 | PMID:10893417 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:11591726 | PMID:12473112 | PMID:12477932 | PMID:15782199 | PMID:16141072 | PMID:16141073 | PMID:17327402 |
| PMID:18799693 | PMID:19784827 | PMID:20716530 | PMID:21267068 | PMID:21677750 | PMID:21873635 | PMID:25264202 | PMID:25600070 | PMID:25753038 | PMID:28972540 | PMID:29321368 | PMID:32325033 |
Genomics
