Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Cornelia de Lange syndrome | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 | ClinVar | PMID:18414213 | Cornelia de Lange syndrome | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Cornelia de Lange Syndrome | ClinVar | | Cornelia de Lange syndrome | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Brachmann de Lange syndrome | ClinVar | PMID:28492532 | Cornelia de Lange syndrome | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Brachmann de Lange syndrome | ClinVar | PMID:26467025, PMID:28492532 | Cornelia de Lange syndrome 1 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 | ClinVar | PMID:28492532 | Cornelia de Lange syndrome 1 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 | ClinVar | | Cornelia de Lange syndrome 1 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 | ClinVar | PMID:18414213 | Cornelia de Lange syndrome 1 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 | ClinVar | PMID:23254390 more ... | Cornelia de Lange syndrome 1 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 | ClinVar | PMID:25741868 | Cornelia de Lange syndrome 1 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 | ClinVar | PMID:20824775, PMID:28492532 | Cornelia de Lange syndrome 1 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 | ClinVar | PMID:26467025, PMID:28492532 | Developmental Disabilities | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25558065 more ... | Developmental Disabilities | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25407461 more ... | Developmental Disabilities | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868 more ... | Developmental Disabilities | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868, PMID:26092869 | Developmental Disabilities | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868 | genetic disease | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:23012439, PMID:28492532 | genetic disease | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:21679365 more ... | Jaundice | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Jaundice | ClinVar | PMID:25741868 more ... | Jaundice | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Jaundice | ClinVar | PMID:25407461 more ... | Joubert syndrome | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome | ClinVar | PMID:25741868, PMID:28492532 | Joubert syndrome | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome | ClinVar | PMID:24033266 | Joubert syndrome | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome | ClinVar | PMID:22425360 | Joubert syndrome | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome | ClinVar | | Joubert syndrome | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome | ClinVar | PMID:25741868 | Joubert syndrome 1 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar | | Joubert syndrome 1 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar | PMID:26092869 | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:25741868 more ... | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:25741868, PMID:26092869 | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:25407461 more ... | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:25741868 more ... | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:25407461 more ... | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:25920555 more ... | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:26096313, PMID:28492532 | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:24091540 more ... | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:18414213 more ... | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:24091540 more ... | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:22425360 more ... | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:25741868 more ... | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:10488899 more ... | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:23012439, PMID:28492532 | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:25741868 more ... | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:25741868, PMID:29321670 | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:22425360 more ... | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:18414213 more ... | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:25741868 more ... | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:22425360, PMID:27158779 | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:25558065 more ... | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:26092869, PMID:28492532 | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:22425360, PMID:28492532 | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:22425360 more ... | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:24178751, PMID:25741868 | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by OMIM:614615 | ClinVar | PMID:18414213, PMID:22425360 | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by OMIM:614615 | ClinVar | PMID:26092869 | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by OMIM:614615 | ClinVar | PMID:25741868 | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:28492532 | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by OMIM:614615 | ClinVar | PMID:22425360 | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:25741868, PMID:28492532 | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by OMIM:614615 | ClinVar | | Joubert syndrome with orofaciodigital defect | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Orofaciodigital syndrome 6 | ClinVar | PMID:28492532 | Joubert syndrome with orofaciodigital defect | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar | PMID:25407461 more ... | Joubert syndrome with orofaciodigital defect | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar | PMID:25741868 more ... | Joubert syndrome with orofaciodigital defect | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Orofaciodigital syndrome 6 | ClinVar | PMID:18414213 more ... | Joubert syndrome with orofaciodigital defect | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar | PMID:24091540 more ... | Joubert syndrome with orofaciodigital defect | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Orofaciodigital syndrome 6 | ClinVar | PMID:24091540 more ... | Joubert syndrome with orofaciodigital defect | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Orofaciodigital syndrome 6 | ClinVar | PMID:22425360, PMID:28492532 | Joubert syndrome with orofaciodigital defect | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Orofaciodigital syndrome 6 | ClinVar | PMID:25741868 more ... | Joubert syndrome with orofaciodigital defect | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar | PMID:23012439, PMID:28492532 | Joubert syndrome with orofaciodigital defect | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar | PMID:22425360 more ... | Joubert syndrome with orofaciodigital defect | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar | PMID:25741868 more ... | Joubert syndrome with orofaciodigital defect | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Orofaciodigital syndrome 6 | ClinVar | PMID:25846457 | Joubert syndrome with orofaciodigital defect | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Orofaciodigital syndrome 6 | ClinVar | PMID:26092869, PMID:28492532 | Joubert syndrome with orofaciodigital defect | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar | PMID:18414213 more ... | Joubert syndrome with orofaciodigital defect | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Orofaciodigital syndrome 6 | ClinVar | PMID:22425360 more ... | Joubert syndrome with orofaciodigital defect | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Orofaciodigital syndrome 6 | ClinVar | PMID:25741868 | Joubert syndrome with orofaciodigital defect | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Orofaciodigital syndrome 6 | ClinVar | PMID:24178751 | Joubert syndrome with orofaciodigital defect | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Orofaciodigital syndrome 6 | ClinVar | PMID:24178751, PMID:25741868 | Joubert syndrome with orofaciodigital defect | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Orofaciodigital syndrome 6 | ClinVar | PMID:25741868, PMID:28492532 | Neurodevelopmental Disorders | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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. | Damerla RR, etal., Hum Mol Genet. 2015 Jul 15;24(14):3994-4005. doi: 10.1093/hmg/ddv137. Epub 2015 Apr 15. |
| 2. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 3. | OMIM Disease Annotation Pipeline |
| 4. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 5. | RGD automated import pipeline for gene-chemical interactions |
| 6. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
Genomics
