Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | KCNH1 | Pig | Developmental Disease | | ISO | KCNH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:25741868 | KCNH1 | Pig | epilepsy | | ISO | KCNH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:23020937 more ... | KCNH1 | Pig | gastrointestinal stromal tumor | | ISO | KCNH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar | PMID:28492532 | KCNH1 | Pig | genetic disease | | ISO | KCNH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:23020937 more ... | KCNH1 | Pig | intellectual disability | | ISO | KCNH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | KCNH1 | Pig | intellectual disability | | ISO | KCNH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:23020937 more ... | KCNH1 | Pig | Neurodevelopmental Disorders | | ISO | KCNH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | KCNH1 | Pig | parathyroid carcinoma | | ISO | KCNH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Parathyroid carcinoma | ClinVar | PMID:28492532 | KCNH1 | Pig | Temple-Baraitser syndrome | | ISO | KCNH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18203178 more ... | KCNH1 | Pig | Zimmerman Laband Syndrome | | ISO | KCNH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Laband syndrome | ClinVar | PMID:23020937 more ... | KCNH1 | Pig | Zimmermann-Laband Syndrome 1 | | ISO | KCNH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18541964 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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