Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Kindler syndrome | | ISO | RGD:1315645 | 8554872 | ClinVar Annotator: match by term: Kindler's syndrome | ClinVar | | Kindler syndrome | | ISO | RGD:1315645 | 8554872 | ClinVar Annotator: match by term: Kindler's syndrome | ClinVar | PMID:25437880, PMID:28492532 | Kindler syndrome | | ISO | RGD:1315645 | 8554872 | ClinVar Annotator: match by term: Kindler's syndrome | ClinVar | PMID:28443301, PMID:28492532 | Kindler syndrome | | ISO | RGD:1315645 | 8554872 | ClinVar Annotator: match by term: Kindler's syndrome | ClinVar | PMID:24635075 | Kindler syndrome | | ISO | RGD:1315645 | 8554872 | ClinVar Annotator: match by term: Kindler's syndrome | ClinVar | PMID:19292718 | Kindler syndrome | | ISO | RGD:1315645 | 8554872 | ClinVar Annotator: match by term: Kindler's syndrome | ClinVar | PMID:24635080 | Kindler syndrome | | ISO | RGD:1315645 | 8554872 | ClinVar Annotator: match by term: Kindler's syndrome | ClinVar | PMID:28492532 | Kindler syndrome | | ISO | RGD:1315645 | 8554872 | ClinVar Annotator: match by term: Kindler's syndrome | ClinVar | PMID:12789646 more ... | Kindler syndrome | | ISO | RGD:1315645 | 8554872 | ClinVar Annotator: match by term: Kindler's syndrome | ClinVar | PMID:14962093, PMID:22220914 | Kindler syndrome | | ISO | RGD:1315645 | 8554872 | ClinVar Annotator: match by term: Kindler's syndrome | ClinVar | PMID:25156791 | Kindler syndrome | | ISO | RGD:1315645 | 8554872 | ClinVar Annotator: match by term: Kindler's syndrome | ClinVar | PMID:16675959 | Kindler syndrome | | ISO | RGD:1315645 | 8554872 | ClinVar Annotator: match by term: Kindler's syndrome | ClinVar | PMID:12789646 | Kindler syndrome | | ISO | RGD:1315645 | 8554872 | ClinVar Annotator: match by term: Kindler's syndrome | ClinVar | PMID:12668616 | Kindler syndrome | | ISO | RGD:1315645 | 8554872 | ClinVar Annotator: match by term: Kindler's syndrome | ClinVar | PMID:25741868 | Kindler syndrome | | ISO | RGD:1315645 | 8554872 | ClinVar Annotator: match by term: Kindler's syndrome | ClinVar | PMID:14507403 more ... | Kindler syndrome | | ISO | RGD:1315645 | 8554872 | ClinVar Annotator: match by term: Kindler's syndrome | ClinVar | PMID:14962093 | Kindler syndrome | | ISO | RGD:1315645 | 8554872 | ClinVar Annotator: match by term: Kindler's syndrome | ClinVar | PMID:25599393 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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
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Molecular Function
Molecular Pathway Annotations Click to see Annotation Detail View
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References
References - curated
| 1. | Calderwood DA, etal., Nat Rev Mol Cell Biol. 2013 Aug;14(8):503-17. doi: 10.1038/nrm3624. Epub 2013 Jul 17. |
| 2. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 3. | Jobard F, etal., Hum Mol Genet. 2003 Apr 15;12(8):925-35. |
| 4. | RGD automated data pipeline |
| 5. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 6. | RGD automated import pipeline for gene-chemical interactions |
| 7. | RGD comprehensive gene curation |
Additional References at PubMed
| PMID:16876785 | PMID:17012746 | PMID:22623678 | PMID:24681597 | PMID:28845732 | PMID:29677029 |
Genomics
