Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | PHKG2 | Human | 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 | PHKG2 | Human | dilated cardiomyopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dilated Cardiomyopathy and Dominant | ClinVar | PMID:28492532 | PHKG2 | Human | familial lipoprotein lipase deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial Lipoprotein Lipase Deficiency | ClinVar | PMID:25266922 more ... | PHKG2 | Human | generalized epilepsy with febrile seizures plus 9 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus and type 9 | ClinVar | PMID:28492532 | PHKG2 | Human | genetic disease | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | PHKG2 | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | PHKG2 | Human | genetic disease | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 | PHKG2 | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar | PMID:8896567 | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: GSD IXc | ClinVar | PMID:25741868 more ... | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar | PMID:25741868 | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar | | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar | PMID:16199547 more ... | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar | PMID:17576681 more ... | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar | PMID:10905889 | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar | PMID:17689125 more ... | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar | PMID:25266922 more ... | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease type IXc | ClinVar | PMID:17689125 more ... | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease type IXc | ClinVar | PMID:17689125 more ... | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar | PMID:17689125 more ... | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar | PMID:12930917 more ... | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar | PMID:28492532 and PMID:35549678 | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: GSD IXc | ClinVar | PMID:24389071 more ... | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar | PMID:24102521 more ... | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar | PMID:12930917 more ... | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar | PMID:12930917 more ... | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar | PMID:27207549 and PMID:28492532 | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar | PMID:24389071 and PMID:28492532 | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar | PMID:17689125 more ... | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar | PMID:17689125 more ... | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar | PMID:22899091 and PMID:28492532 | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar | PMID:24102521 more ... | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar | PMID:25741868 and PMID:8896567 | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar | PMID:17689125 more ... | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar | PMID:17689125 more ... | PHKG2 | Human | glycogen storage disease IXC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar | PMID:2558039 and PMID:9384616 | PHKG2 | Human | Mauriac Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mauriac syndrome | ClinVar | PMID:27207549 and PMID:28492532 | |