Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | agenesis of the corpus callosum with peripheral neuropathy | | ISO | RGD:1322734 | 8554872 | ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy | ClinVar | PMID:12368912 more ... | Autosomal Recessive Dyskeratosis Congenita | | ISO | RGD:1322734 | 8554872 | ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive | ClinVar | | autosomal recessive dyskeratosis congenita 1 | | ISO | RGD:1322734 | 8554872 | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 | ClinVar | | Bloom syndrome | | ISO | RGD:1322734 | 8554872 | ClinVar Annotator: match by term: Bloom syndrome | ClinVar | PMID:28492532 | Charcot-Marie-Tooth disease | | ISO | RGD:1322734 | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar | PMID:12368912 more ... | colorectal cancer | | ISO | RGD:1322734 | 8554872 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar | PMID:28492532 | genetic disease | | ISO | RGD:1322734 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | Hypertelorism | | ISO | RGD:1322734 | 8554872 | ClinVar Annotator: match by term: Hypertelorism | ClinVar | PMID:12368912 more ... | neuropathy | | ISO | RGD:1322734 | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 | peripheral nervous system disease | | ISO | RGD:1322734 | 8554872 | ClinVar Annotator: match by term: Peripheral neuropathy | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
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
Cellular Component
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Molecular Pathway Annotations Click to see Annotation Detail View
Imported Annotations - SMPDB
Disease Annotations
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Gene Ontology Annotations
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Molecular Function
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Molecular Pathway Annotations
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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. | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 6. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 7. | RGD automated import pipeline for gene-chemical interactions |
| 8. | Uyanik G, etal., Neurology. 2006 Apr 11;66(7):1044-8. |
Additional References at PubMed
| PMID:10187864 | PMID:11246162 | PMID:12657561 | PMID:15533301 | PMID:16048901 | PMID:16872584 | PMID:18178552 | PMID:20691666 | PMID:22732406 | PMID:22776998 | PMID:24089410 | PMID:24393035 |
| PMID:27782176 |
Genomics
