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Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | DOT1L | Human | Developmental Disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:25741868 | DOT1L | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | DOT1L | Human | Neurodevelopmental Disorders | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | DOT1L | Human | progressive myoclonus epilepsy 9 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 | ClinVar | PMID:28492532 | |