Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | congenital disorder of glycosylation | | ISO | RGD:1349178 | 8554872 | ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar | | congenital disorder of glycosylation | | ISO | RGD:1349178 | 8554872 | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar | PMID:28492532 | congenital disorder of glycosylation type IIe | | ISO | RGD:1349178 | 8554872 | ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation | ClinVar | PMID:25741868 | congenital disorder of glycosylation type IIe | | ISO | RGD:1349178 | 8554872 | ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation | ClinVar | PMID:15107842 more ... | congenital disorder of glycosylation type IIe | | ISO | RGD:1349178 | 8554872 | ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation | ClinVar | PMID:21811164, PMID:28492532 | congenital disorder of glycosylation type IIe | | ISO | RGD:1349178 | 8554872 | ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation | ClinVar | PMID:25741868, PMID:28492532 | congenital disorder of glycosylation type IIe | | ISO | RGD:1349178 | 8554872 | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2E | ClinVar | PMID:28492532 | congenital disorder of glycosylation type IIe | | ISO | RGD:1349178 | 8554872 | ClinVar Annotator: match by OMIM:608779 | ClinVar | | congenital disorder of glycosylation type IIe | | ISO | RGD:1349178 | 8554872 | ClinVar Annotator: match by OMIM:608779 | ClinVar | PMID:19577670 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
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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. | OMIM Disease Annotation Pipeline |
| 3. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 4. | RGD automated import pipeline for gene-chemical interactions |
| 5. | RGD comprehensive gene curation |
| 6. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
| 7. | Wu X, etal., Nat Med. 2004 May;10(5):518-23. Epub 2004 Apr 25. |
Genomics
