Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | cleft lip-palate-ectodermal dysplasia syndrome | | ISO | RGD:1350722 | 8554872 | ClinVar Annotator: match by OMIM:225060 | ClinVar | PMID:10932188 | cleft lip-palate-ectodermal dysplasia syndrome | | ISO | RGD:1350722 | 8554872 | ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar | PMID:25741868 | cleft lip-palate-ectodermal dysplasia syndrome | | ISO | RGD:1350722 | 8554872 | ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar | PMID:16674562, PMID:17089422 | cleft lip-palate-ectodermal dysplasia syndrome | | ISO | RGD:1350722 | 8554872 | ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar | PMID:11756979 more ... | cleft lip-palate-ectodermal dysplasia syndrome | | ISO | RGD:1350722 | 8554872 | ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar | PMID:16674562 | cleft lip-palate-ectodermal dysplasia syndrome | | ISO | RGD:1350722 | 8554872 | ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar | PMID:19715471 | cleft lip-palate-ectodermal dysplasia syndrome | | ISO | RGD:1350722 | 8554872 | ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar | PMID:28492532 | cleft lip-palate-ectodermal dysplasia syndrome | | ISO | RGD:1350722 | 8554872 | ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar | | cleft lip-palate-ectodermal dysplasia syndrome | | ISO | RGD:1350722 | 8554872 | ClinVar Annotator: match by OMIM:225060 | ClinVar | PMID:10932188, PMID:3035184 | cleft lip-palate-ectodermal dysplasia syndrome | | ISO | RGD:1350722 | 8554872 | ClinVar Annotator: match by OMIM:225060 | ClinVar | PMID:10932188, PMID:11559849 | Dwarfism | | ISO | RGD:1350722 | 8554872 | ClinVar Annotator: match by term: Short stature | ClinVar | PMID:32581362 | orofacial cleft 7 | | ISO | RGD:1350722 | 8554872 | ClinVar Annotator: match by null | ClinVar | PMID:10932188, PMID:11559849 | RASopathy | | ISO | RGD:1350722 | 8554872 | ClinVar Annotator: match by term: Rasopathy | ClinVar | PMID:28492532 | schizophrenia | | ISO | RGD:1350722 | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | PMID:21681106, PMID:30208311 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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. | Lim ST, etal., J Comp Neurol. 2008 Mar 10;507(2):1228-44. |
| 3. | Mizoguchi A, etal., J Cell Biol. 2002 Feb 4;156(3):555-65. Epub 2002 Feb 4. |
| 4. | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 5. | Ng CE, etal., Int J Cancer 2001 Oct 20;96(5):277-85. |
| 6. | Okabe N, etal., Dev Biol. 2004 Sep 15;273(2):244-56. |
| 7. | OMIM Disease Annotation Pipeline |
| 8. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 9. | RGD automated import pipeline for gene-chemical interactions |
| 10. | Richart SM, etal., J Virol. 2003 Mar;77(5):3307-11. |
| 11. | Suzuki K, etal., Nat Genet. 2000 Aug;25(4):427-30. |
| 12. | Togashi H, etal., J Cell Biol. 2006 Jul 3;174(1):141-51. Epub 2006 Jun 26. |
Additional References at PubMed
| PMID:10225955 | PMID:11090177 | PMID:11277703 | PMID:12011057 | PMID:12438620 | PMID:12515806 | PMID:12826663 | PMID:15728677 | PMID:18703497 | PMID:21982860 | PMID:22512338 | PMID:22902367 |
| PMID:23418609 | PMID:23533177 |
Genomics
