Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Cornelia de Lange syndrome 1 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 | ClinVar | PMID:28492532 | Developmental Disabilities | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:24178751 more ... | genetic disease | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:21679365 more ... | high grade glioma | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Astrocytoma | ClinVar | PMID:25741868, PMID:28492532 | Jaundice | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Jaundice | ClinVar | PMID:24178751 more ... | Joubert syndrome | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome | ClinVar | PMID:22425360 more ... | Joubert syndrome 1 | | ISO | RGD:1606513 | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | Joubert syndrome 1 | | ISO | RGD:1606513 | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | Joubert Syndrome 17 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 17 | ClinVar | PMID:10488899 more ... | Joubert syndrome with orofaciodigital defect | | ISO | RGD:1606513 | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | nephronophthisis | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: Nephronophthisis | ClinVar | PMID:22425360 more ... | nephronophthisis 1 | | ISO | RGD:1606513 | 8554872 | ClinVar Annotator: match by term: juvenile nephronophthisis | ClinVar | PMID:24178751 more ... | 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
| # | Reference Title | Reference Citation |
| 1. | Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies. | Damerla RR, etal., Hum Mol Genet. 2015 Jul 15;24(14):3994-4005. doi: 10.1093/hmg/ddv137. Epub 2015 Apr 15. |
| 2. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | 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 | OMIM Disease Annotation Pipeline |
| 4. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 6. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
Genomics
