Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Ectodermal Dysplasia-Skin Fragility Syndrome | | ISO | RGD:1316687 | 8554872 | ClinVar Annotator: match by term: Ectodermal dysplasia skin fragility syndrome | ClinVar | PMID:16781314 | Ectodermal Dysplasia-Skin Fragility Syndrome | | ISO | RGD:1316687 | 8554872 | ClinVar Annotator: match by term: Ectodermal dysplasia skin fragility syndrome | ClinVar | PMID:24073657 | Ectodermal Dysplasia-Skin Fragility Syndrome | | ISO | RGD:1316687 | 8554872 | ClinVar Annotator: match by term: Ectodermal dysplasia skin fragility syndrome | ClinVar | PMID:11994137 | Ectodermal Dysplasia-Skin Fragility Syndrome | | ISO | RGD:1316687 | 8554872 | ClinVar Annotator: match by term: Ectodermal dysplasia skin fragility syndrome | ClinVar | PMID:28492532 | Ectodermal Dysplasia-Skin Fragility Syndrome | | ISO | RGD:1316687 | 8554872 | ClinVar Annotator: match by term: Ectodermal dysplasia skin fragility syndrome | ClinVar | PMID:25741868 | Ectodermal Dysplasia-Skin Fragility Syndrome | | ISO | RGD:1316687 | 8554872 | ClinVar Annotator: match by OMIM:604536 | ClinVar | PMID:10951270 | Ectodermal Dysplasia-Skin Fragility Syndrome | | ISO | RGD:1316687 | 8554872 | ClinVar Annotator: match by OMIM:604536 | ClinVar | PMID:9326952 | Ectodermal Dysplasia-Skin Fragility Syndrome | | ISO | RGD:1316687 | 8554872 | ClinVar Annotator: match by term: Ectodermal dysplasia skin fragility syndrome | ClinVar | | gastrointestinal stromal tumor | | ISO | RGD:1316687 | 8554872 | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar | PMID:28492532 | parathyroid carcinoma | | ISO | RGD:1316687 | 8554872 | ClinVar Annotator: match by term: Parathyroid carcinoma | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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
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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References
References - curated
| 1. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 2. | McGrath JA, etal., Nat Genet. 1997 Oct;17(2):240-4. |
| 3. | MGD data from the GO Consortium |
| 4. | OMIM Disease Annotation 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 |
Genomics
