Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal dominant Emery-Dreifuss muscular dystrophy 5 | | ISO | RGD:1312719 | 8554872 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant | ClinVar | PMID:25741868 | autosomal dominant Emery-Dreifuss muscular dystrophy 5 | | ISO | RGD:1312719 | 8554872 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant | ClinVar | PMID:25741868 more ... | autosomal dominant Emery-Dreifuss muscular dystrophy 5 | | ISO | RGD:1312719 | 8554872 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant | ClinVar | PMID:25179549, PMID:28492532 | autosomal dominant Emery-Dreifuss muscular dystrophy 5 | | ISO | RGD:1312719 | 8554872 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant | ClinVar | PMID:18414213, PMID:26467025 | autosomal dominant Emery-Dreifuss muscular dystrophy 5 | | ISO | RGD:1312719 | 8554872 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant | ClinVar | PMID:26467025 | autosomal dominant Emery-Dreifuss muscular dystrophy 5 | | ISO | RGD:1312719 | 8554872 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant | ClinVar | PMID:25214167, PMID:28492532 | autosomal dominant Emery-Dreifuss muscular dystrophy 5 | | ISO | RGD:1312719 | 8554872 | ClinVar Annotator: match by term: Emery-dreifuss muscular dystrophy 5, autosomal dominant | ClinVar | PMID:17761684 more ... | autosomal dominant Emery-Dreifuss muscular dystrophy 5 | | ISO | RGD:1312719 | 8554872 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant | ClinVar | PMID:25741868, PMID:28492532 | autosomal dominant Emery-Dreifuss muscular dystrophy 5 | | ISO | RGD:1312719 | 8554872 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant | ClinVar | PMID:25741868 more ... | autosomal dominant Emery-Dreifuss muscular dystrophy 5 | | ISO | RGD:1312719 | 8554872 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant | ClinVar | | autosomal dominant Emery-Dreifuss muscular dystrophy 5 | | ISO | RGD:1312719 | 8554872 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant | ClinVar | PMID:26467025, PMID:28492532 | autosomal dominant Emery-Dreifuss muscular dystrophy 5 | | ISO | RGD:1312719 | 8554872 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant | ClinVar | PMID:18414213, PMID:28492532 | autosomal dominant Emery-Dreifuss muscular dystrophy 5 | | ISO | RGD:1312719 | 8554872 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant | ClinVar | PMID:18414213, PMID:25741868 | autosomal dominant Emery-Dreifuss muscular dystrophy 5 | | ISO | RGD:1312719 | 8554872 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant | ClinVar | PMID:18414213 | autosomal dominant Emery-Dreifuss muscular dystrophy 5 | | ISO | RGD:1312719 | 8554872 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant | ClinVar | PMID:28492532 | autosomal dominant Emery-Dreifuss muscular dystrophy 5 | | ISO | RGD:1312719 | 8554872 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant | ClinVar | PMID:28492532, PMID:28798025 | autosomal dominant Emery-Dreifuss muscular dystrophy 5 | | ISO | RGD:1312719 | 8554872 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant | ClinVar | PMID:26467025 more ... | autosomal dominant Emery-Dreifuss muscular dystrophy 5 | | ISO | RGD:1312719 | 8554872 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant | ClinVar | PMID:25587064 more ... | dilated cardiomyopathy | | ISO | RGD:1312719 | 8554872 | ClinVar Annotator: match by term: Cardiomyopathy, Dilated | ClinVar | | Emery-Dreifuss muscular dystrophy | | ISO | RGD:1312719 | 8554872 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar | PMID:28492532 | Emery-Dreifuss muscular dystrophy | | ISO | RGD:1312719 | 8554872 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar | | obstructive sleep apnea | | ISO | RGD:1312719 | 8554872 | ClinVar Annotator: match by term: Obstructive sleep apnea syndrome | ClinVar | PMID:25741868 | restrictive cardiomyopathy | | ISO | RGD:1312719 | 8554872 | ClinVar Annotator: match by term: Cardiomyopathy, restrictive | ClinVar | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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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Biological Process
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Molecular Function
References
References - curated
| 1. | Barthold JS, etal., Mol Hum Reprod. 2016 Jan;22(1):18-34. doi: 10.1093/molehr/gav060. Epub 2015 Oct 26. |
| 2. | OMIM Disease Annotation Pipeline |
| 3. | RGD automated data 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 |
Additional References at PubMed
| PMID:12118075 | PMID:12477932 | PMID:15671068 | PMID:18396275 | PMID:18477613 | PMID:18570454 | PMID:19596800 | PMID:19874786 | PMID:20457914 | PMID:20724637 | PMID:22349700 | PMID:25721888 |
| PMID:26506308 |
Genomics
