Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Cerebrooculofacioskeletal Syndrome 3 | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 3 | ClinVar | PMID:24700531 | Cerebrooculofacioskeletal Syndrome 3 | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 3 | ClinVar | PMID:11443545 more ... | Cerebrooculofacioskeletal Syndrome 3 | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 3 | ClinVar | | xeroderma pigmentosum | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by term: Xeroderma pigmentosum | ClinVar | PMID:11841555 more ... | xeroderma pigmentosum | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by term: Xeroderma pigmentosum | ClinVar | PMID:24033266 | xeroderma pigmentosum | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by term: Xeroderma pigmentosum | ClinVar | PMID:7951246 | xeroderma pigmentosum | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by term: Xeroderma pigmentosum | ClinVar | | Xeroderma Pigmentosum G / Cockayne Syndrome | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by term: Xeroderma pigmentosum group g/Cockayne syndrome | ClinVar | PMID:11228268 | Xeroderma Pigmentosum G / Cockayne Syndrome | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by term: Xeroderma pigmentosum group g/Cockayne syndrome | ClinVar | PMID:2478446, PMID:8317483 | Xeroderma Pigmentosum G / Cockayne Syndrome | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by term: Xeroderma pigmentosum group g/Cockayne syndrome | ClinVar | | Xeroderma Pigmentosum G / Cockayne Syndrome | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by term: Xeroderma pigmentosum and Cockayne syndrome complex | ClinVar | PMID:25741868 | xeroderma pigmentosum group G | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by term: Xeroderma pigmentosum, group G | ClinVar | PMID:11841555 more ... | xeroderma pigmentosum group G | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by term: Xeroderma pigmentosum, group G | ClinVar | PMID:16550608 | xeroderma pigmentosum group G | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by term: Xeroderma pigmentosum, group G | ClinVar | PMID:24728327 more ... | xeroderma pigmentosum group G | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by term: Xeroderma pigmentosum, group G | ClinVar | PMID:15682379 more ... | xeroderma pigmentosum group G | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by term: Xeroderma pigmentosum, group G | ClinVar | PMID:22821389 more ... | xeroderma pigmentosum group G | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by term: Xeroderma pigmentosum, group G | ClinVar | PMID:24728327, PMID:28492532 | xeroderma pigmentosum group G | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by term: Xeroderma pigmentosum, group G | ClinVar | PMID:10026181 more ... | xeroderma pigmentosum group G | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by term: Xeroderma pigmentosum, group G | ClinVar | PMID:25741868, PMID:28492532 | xeroderma pigmentosum group G | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by term: Xeroderma pigmentosum, group G | ClinVar | PMID:28492532 | xeroderma pigmentosum group G | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by term: Xeroderma pigmentosum, group G | ClinVar | PMID:25741868 | xeroderma pigmentosum group G | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by term: Xeroderma pigmentosum, group G | ClinVar | PMID:24728327, PMID:25741868 | xeroderma pigmentosum group G | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by term: Xeroderma pigmentosum, group G | ClinVar | PMID:24728327 | xeroderma pigmentosum group G | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by OMIM:278780 | ClinVar | | xeroderma pigmentosum group G | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by OMIM:278780 | ClinVar | PMID:15082767, PMID:24033266 | xeroderma pigmentosum group G | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by OMIM:278780 | ClinVar | PMID:23255472 | xeroderma pigmentosum group G | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by OMIM:278780 | ClinVar | PMID:12060391 | xeroderma pigmentosum group G | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by OMIM:278780 | ClinVar | PMID:11841555 more ... | xeroderma pigmentosum group G | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by OMIM:278780 | ClinVar | PMID:10026181 more ... | xeroderma pigmentosum group G | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by OMIM:278780 | ClinVar | PMID:7951246 | xeroderma pigmentosum group G | | ISO | RGD:1342473 | 8554872 | ClinVar Annotator: match by OMIM:278780 | ClinVar | PMID:11219864, 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Imported Disease Annotations - MGI
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
| 1. | Egly JM and Coin F, DNA Repair (Amst). 2011 Jul 15;10(7):714-21. doi: 10.1016/j.dnarep.2011.04.021. Epub 2011 May 17. |
| 2. | Harada YN, etal., Genomics 1995 Jul 1;28(1):59-65. |
| 3. | Kamileri I, etal., Trends Genet. 2012 Nov;28(11):566-73. doi: 10.1016/j.tig.2012.06.004. Epub 2012 Jul 22. |
| 4. | MGD and Homologene mouse data transfer |
| 5. | MGD data from the GO Consortium |
| 6. | MGD IEA |
| 7. | OMIM Disease Annotation Pipeline |
| 8. | Pipeline to import KEGG annotations from KEGG into RGD |
| 9. | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 10. | RGD automated import pipeline |
| 11. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 12. | RGD automated import pipeline for gene-chemical interactions |
| 13. | Sakaguchi K, etal., FEBS J. 2009 Feb;276(4):943-63. doi: 10.1111/j.1742-4658.2008.06841.x. Epub 2009 Jan 12. |
| 14. | Schrama D, etal., J Invest Dermatol. 2011 Jun;131(6):1280-90. doi: 10.1038/jid.2011.35. Epub 2011 Mar 10. |
| 15. | Shiomi N, etal., Mol Cell Biol. 2004 May;24(9):3712-9. |
Additional References at PubMed
| PMID:7510366 | PMID:8703115 | PMID:8954777 | PMID:9828143 | PMID:10022922 | PMID:10349636 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:11266544 | PMID:11423996 |
| PMID:11544199 | PMID:12466851 | PMID:12477932 | PMID:14610273 | PMID:14993263 | PMID:15661658 | PMID:16141072 | PMID:16141073 | PMID:16602821 | PMID:20868484 | PMID:21267068 | PMID:21873635 |
| PMID:22863773 | PMID:23435420 | PMID:25299392 | PMID:25963976 | PMID:26833090 | PMID:27556946 | PMID:27624071 | PMID:28190767 | PMID:28608850 |
Genomics
