Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | branched-chain keto acid dehydrogenase kinase deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency | ClinVar | PMID:17576681 more ... | branched-chain keto acid dehydrogenase kinase deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency | ClinVar | PMID:26467025 and PMID:28492532 | branched-chain keto acid dehydrogenase kinase deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency | ClinVar | PMID:25741868 | branched-chain keto acid dehydrogenase kinase deficiency | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency | ClinVar | PMID:22956686 | branched-chain keto acid dehydrogenase kinase deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency | ClinVar | PMID:22956686 and PMID:36729635 | branched-chain keto acid dehydrogenase kinase deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency | ClinVar | PMID:28492532 | branched-chain keto acid dehydrogenase kinase deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency | ClinVar | PMID:36729635 | branched-chain keto acid dehydrogenase kinase deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency | ClinVar | PMID:25741868 and PMID:28492532 | branched-chain keto acid dehydrogenase kinase deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency | ClinVar | PMID:17576681 more ... | branched-chain keto acid dehydrogenase kinase deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency | ClinVar | PMID:25741868 and PMID:26467025 | branched-chain keto acid dehydrogenase kinase deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency | ClinVar | PMID:25741868 more ... | epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:26467025 and PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:17576681 more ... | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:26467025 | intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:30167849 | maple syrup urine disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Maple syrup urine disease and mild variant | ClinVar | PMID:25741868 and PMID:35205278 | |