Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | blepharophimosis, ptosis, and epicanthus inversus syndrome | | ISO | RGD:732794 | 8554872 | ClinVar Annotator: match by term: Blepharophimosis more ... | ClinVar | | combined oxidative phosphorylation deficiency | | ISO | RGD:732794 | 8554872 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency | ClinVar | | combined oxidative phosphorylation deficiency 5 | | ISO | RGD:732794 | 8554872 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 5 | ClinVar | | combined oxidative phosphorylation deficiency 5 | | ISO | RGD:732794 | 8554872 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 5 | ClinVar | PMID:25741868 | combined oxidative phosphorylation deficiency 5 | | ISO | RGD:732794 | 8554872 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 5 | ClinVar | PMID:28492532 | primary autosomal recessive microcephaly 19 | | ISO | RGD:732794 | 8554872 | ClinVar Annotator: match by term: MICROCEPHALY 19 more ... | ClinVar | PMID:29036432 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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
Phenotype Annotations Click to see Annotation Detail View
Mammalian Phenotype
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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Phenotype Annotations
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Mammalian Phenotype
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References
References - curated
| 1. | MGD data from the GO Consortium |
| 2. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 3. | RGD automated import pipeline for gene-chemical interactions |
Additional References at PubMed
| PMID:8947846 | PMID:10349636 | PMID:10702668 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:11544199 | PMID:12466851 | PMID:12477932 | PMID:12520002 | PMID:14610273 |
| PMID:15226823 | PMID:15489334 | PMID:15728249 | PMID:15782199 | PMID:16141072 | PMID:16141073 | PMID:20724702 | PMID:21267068 | PMID:21677750 | PMID:21873635 | PMID:22442722 | PMID:22922362 |
| PMID:23716698 | PMID:24457600 | PMID:24565867 | PMID:25044020 | PMID:25737280 | PMID:28378742 | PMID:29036432 | PMID:32325033 |
Genomics
