Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | coloboma | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by term: Congenital ocular coloboma | ClinVar | | Developmental Disabilities | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868 | intellectual disability | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | microcephaly | | ISO | RGD:1347674 | 8554872 | ClinVar more ... | ClinVar | PMID:18414213 more ... | primary autosomal recessive microcephaly 3 | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by term: Microcephaly 3 more ... | ClinVar | PMID:10677332 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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
Molecular Function
Disease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Biological Process
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Cellular Component
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Molecular Function
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References
References - curated
| 1. | Ching YP, etal., Gene 2000 Jan 25;242(1-2):285-94. |
| 2. | Hassan MJ, etal., BMC Med Genet. 2007 Sep 1;8:58. |
| 3. | Issa L, etal., Orphanet J Rare Dis. 2013 Apr 15;8:59. doi: 10.1186/1750-1172-8-59. |
| 4. | OMIM Disease Annotation Pipeline |
| 5. | RGD automated data pipeline |
| 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. | Wang X, etal., J Biol Chem 2000 Oct 13;275(41):31763-9. |
| 9. | Yigit G, etal., Mol Genet Genomic Med. 2015 Sep;3(5):467-80. doi: 10.1002/mgg3.158. Epub 2015 May 24. |
Additional References at PubMed
| PMID:14654843 | PMID:17920017 | PMID:17959831 | PMID:18042621 | PMID:19056867 | PMID:19282672 | PMID:19543530 | PMID:19553473 | PMID:20460369 | PMID:20466722 | PMID:20471352 | PMID:20627074 |
| PMID:21399614 | PMID:22179047 | PMID:23376485 | PMID:25220058 | PMID:25657325 | PMID:26297806 | PMID:26485573 | PMID:26550838 | PMID:28057765 | PMID:29162697 |
Genomics
