Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | ISO | RGD:14351525 | 9068941 | ClinVar Annotator: match by term: Autistic disorder of childhood onset | ClinVar | PMID:21681106, PMID:30208311 | Bethlem Myopathy 1 | | ISO | RGD:21070711 | 9068941 | ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar | PMID:14673707, PMID:25741868 | Dent disease | | ISO | RGD:11631154 | 9068941 | ClinVar Annotator: match by term: Dent Disease | ClinVar | | Dent disease | | ISO | RGD:11665263 | 9068941 | ClinVar Annotator: match by term: Dent Disease | ClinVar | | Dent disease | | ISO | RGD:11614874 | 9068941 | ClinVar Annotator: match by term: Dent Disease | ClinVar | | Dent disease | | ISO | RGD:11632237 | 9068941 | ClinVar Annotator: match by term: Dent Disease | ClinVar | | Dent disease | | ISO | RGD:11631876 | 9068941 | ClinVar Annotator: match by term: Dent Disease | ClinVar | | Dent disease | | ISO | RGD:11627394 | 9068941 | ClinVar Annotator: match by term: Dent Disease | ClinVar | | Dent disease | | ISO | RGD:11617317 | 9068941 | ClinVar Annotator: match by term: Dent Disease | ClinVar | | Dent disease | | ISO | RGD:11631347 | 9068941 | ClinVar Annotator: match by term: Dent Disease | ClinVar | | Dent disease | | ISO | RGD:11631547 | 9068941 | ClinVar Annotator: match by term: Dent's disease | ClinVar | PMID:28492532 | Dent disease | | ISO | RGD:11629296 | 9068941 | ClinVar Annotator: match by term: Dent Disease | ClinVar | | Dent disease | | ISO | RGD:11629412 | 9068941 | ClinVar Annotator: match by term: Dent Disease | ClinVar | | Dent disease | | ISO | RGD:11630751 | 9068941 | ClinVar Annotator: match by term: Dent Disease | ClinVar | | Dent disease | | ISO | RGD:11628977 | 9068941 | ClinVar Annotator: match by term: Dent Disease | ClinVar | | Dent disease | | ISO | RGD:11626654 | 9068941 | ClinVar Annotator: match by term: Dent Disease | ClinVar | | Dent disease | | ISO | RGD:11626606 | 9068941 | ClinVar Annotator: match by term: Dent Disease | ClinVar | PMID:15814539 | Dent disease | | ISO | RGD:11632180 | 9068941 | ClinVar Annotator: match by term: Dent Disease | ClinVar | | Dent disease | | ISO | RGD:11630479 | 9068941 | ClinVar Annotator: match by term: Dent Disease | ClinVar | | Dent disease | | ISO | RGD:11631680 | 9068941 | ClinVar Annotator: match by term: Dent Disease | ClinVar | | Dent disease | | ISO | RGD:11627712 | 9068941 | ClinVar Annotator: match by term: Dent Disease | ClinVar | | Dent disease | | ISO | RGD:11626252 | 9068941 | ClinVar Annotator: match by term: Dent Disease | ClinVar | | Dent disease | | ISO | RGD:11628222 | 9068941 | ClinVar Annotator: match by term: Dent Disease | ClinVar | | genetic disease | | ISO | RGD:40887048 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:9734595 | genetic disease | | ISO | RGD:13530709 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10906159 | Hyperkalemia | | ISO | RGD:13611921 | 9068941 | ClinVar Annotator: match by term: Hyperkalemia | ClinVar | PMID:25741868 | syndromic X-linked intellectual disability Lubs type | | ISO | RGD:14399337 | 9068941 | ClinVar Annotator: match by term: MECP2 duplication syndrome | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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