Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | corneal dystrophy | | ISO | RGD:1342963 | 8554872 | ClinVar Annotator: match by term: Corneal Dystrophy, Dominant/Recessive | ClinVar | | gelatinous drop-like corneal dystrophy | | ISO | RGD:1342963 | 8554872 | ClinVar Annotator: match by term: Lattice corneal dystrophy Type III | ClinVar | | gelatinous drop-like corneal dystrophy | | ISO | RGD:1342963 | 8554872 | ClinVar Annotator: match by term: Lattice corneal dystrophy Type III | ClinVar | PMID:28492532 | gelatinous drop-like corneal dystrophy | | ISO | RGD:1342963 | 8554872 | ClinVar Annotator: match by OMIM:204870 | ClinVar | PMID:15652848 | gelatinous drop-like corneal dystrophy | | ISO | RGD:1342963 | 8554872 | ClinVar Annotator: match by OMIM:204870 | ClinVar | PMID:12107443 | gelatinous drop-like corneal dystrophy | | ISO | RGD:1342963 | 8554872 | ClinVar Annotator: match by OMIM:204870 | ClinVar | PMID:10192395 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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
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Molecular Function
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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. | GOA data from the GO Consortium |
| 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 |
| 8. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
| 9. | Tsujikawa M, etal., Nat Genet. 1999 Apr;21(4):420-3. |
Additional References at PubMed
| PMID:9462726 | PMID:19199708 | PMID:21743029 | PMID:22194864 | PMID:23070813 | PMID:23376485 |
Genomics
