Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | SLC12A3 | Green Monkey | aortic disease | | ISO | SLC12A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial aortopathy | ClinVar | PMID:10988270 more ... | SLC12A3 | Green Monkey | Bardet-Biedl syndrome | | ISO | SLC12A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bardet-Biedl syndrome | ClinVar | PMID:11285252 more ... | SLC12A3 | Green Monkey | Bartter disease | | ISO | SLC12A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bartter's syndrome | ClinVar | PMID:10988270 more ... | SLC12A3 | Green Monkey | Chromosome 16q12 Duplication Syndrome | | ISO | SLC12A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome | ClinVar | PMID:25741868 | SLC12A3 | Green Monkey | developmental and epileptic encephalopathy | | ISO | SLC12A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar | PMID:11285252 more ... | SLC12A3 | Green Monkey | early infantile epileptic encephalopathy | | ISO | SLC12A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar | PMID:11285252 more ... | SLC12A3 | Green Monkey | genetic disease | | ISO | SLC12A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10988270 more ... | SLC12A3 | Green Monkey | Gitelman syndrome | | ISO | SLC12A3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10516289 more ... | SLC12A3 | Green Monkey | hypokalemia | | ISO | SLC12A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypokalemia | ClinVar | PMID:10988270 more ... | SLC12A3 | Green Monkey | Muscle Weakness | | ISO | SLC12A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Muscle weakness | ClinVar | PMID:10988270 more ... | SLC12A3 | Green Monkey | Myalgia | | ISO | SLC12A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myalgia | ClinVar | PMID:10988270 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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