Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Erythropoietic Protoporphyria 1 | | ISO | RGD:1316819 | 8554872 | ClinVar Annotator: match by term: Protoporphyria more ... | ClinVar | PMID:10942404 more ... | Erythropoietic Protoporphyria 2 | | ISO | RGD:1316819 | 8554872 | ClinVar Annotator: match by term: Autosomal erythropoietic protoporphyria | ClinVar | PMID:11753383 more ... | immunodeficiency 12 | | ISO | RGD:1316819 | 8554872 | ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency | ClinVar | PMID:23727036 more ... | Jaundice | | ISO | RGD:1316819 | 8554872 | ClinVar Annotator: match by term: Jaundice | ClinVar | PMID:11753383 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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)
Imported Annotations - PID (archival)
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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Molecular Function
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Molecular Pathway Annotations
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References
References - curated
| 1. | Abraham NG, etal., Biochim Biophys Acta. 1986 Mar 28;870(2):339-49. |
| 2. | Ajioka RS, etal., Biochim Biophys Acta. 2006 Jul;1763(7):723-36. Epub 2006 Jun 3. |
| 3. | Barupala DP, etal., Arch Biochem Biophys. 2016 Feb 15;592:60-75. doi: 10.1016/j.abb.2016.01.010. Epub 2016 Jan 16. |
| 4. | Bloomer J, etal., Gene Regul Syst Bio. 2008 May 29;2:233-41. |
| 5. | Bonkowsky HL, etal., J Clin Invest. 1975 Nov;56(5):1139-48. |
| 6. | Canepa ET, etal., Biochem Cell Biol. 1992 Jan;70(1):26-33. |
| 7. | Farrag MS, etal., Folia Biol (Praha). 2015;61(6):227-32. |
| 8. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 9. | GenMAPP |
| 10. | GOA data from the GO Consortium |
| 11. | Henriksson M, etal., J Invest Dermatol. 1996 Feb;106(2):346-50. |
| 12. | Jollie DR and Maines MD, Arch Biochem Biophys. 1985 Jul;240(1):51-9. |
| 13. | Kadara H, etal., Clin Genet. 2017 Nov;92(5):495-502. doi: 10.1111/cge.12968. Epub 2017 Aug 2. |
| 14. | Mamet R, etal., Biochem Med Metab Biol. 1994 Jun;52(1):53-7. |
| 15. | MGD data from the GO Consortium |
| 16. | Mizawa M, etal., Br J Dermatol. 2016 Jan;174(1):172-5. doi: 10.1111/bjd.14078. Epub 2015 Nov 7. |
| 17. | Nagai M, etal., Biochem Pharmacol. 1997 Mar 7;53(5):643-50. |
| 18. | Nichol AW, etal., Biochem Pharmacol. 1983 Sep 15;32(18):2653-7. |
| 19. | OMIM Disease Annotation Pipeline |
| 20. | Oskarsson A and Fowler BA, Exp Mol Pathol. 1985 Dec;43(3):409-17. |
| 21. | Pipeline to import KEGG annotations from KEGG into RGD |
| 22. | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 23. | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 24. | RGD automated data pipeline |
| 25. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 26. | RGD automated import pipeline for gene-chemical interactions |
| 27. | RGD comprehensive gene curation |
| 28. | Rios de Molina MC, etal., Braz J Med Biol Res. 2002 Nov;35(11):1273-83. |
| 29. | Schneider-Yin X, etal., Blood. 2000 Aug 15;96(4):1545-9. |
| 30. | Shanker J and Datta K, Biochem Biophys Res Commun. 1986 Jul 31;138(2):751-7. |
| 31. | Wainstok de Calmanovici R, etal., Biochem J. 1984 Mar 15;218(3):753-63. |
| 32. | Woods JS and Fowler BA, Ann N Y Acad Sci. 1987;514:55-64. |
| 33. | Woods JS and Fowler BA, Environ Health Perspect. 1977 Aug;19:209-13. |
| 34. | Woods JS and Fowler BA, Toxicol Appl Pharmacol. 1987 Sep 15;90(2):274-83. |
Additional References at PubMed
| PMID:1939658 | PMID:7575558 | PMID:8325637 | PMID:8611576 | PMID:8973195 | PMID:9989256 | PMID:11160364 | PMID:12149233 | PMID:14651853 | PMID:14981080 | PMID:15123683 | PMID:15496139 |
| PMID:15931390 | PMID:16306232 | PMID:16503645 | PMID:17003376 | PMID:18614015 | PMID:23395172 | PMID:27599036 |
Genomics
