Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | Coffin-Lowry syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Coffin-Lowry syndrome | ClinVar | PMID:17304053 more ... | developmental and epileptic encephalopathy 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 2 | ClinVar | PMID:17304053 more ... | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10330341 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:25741868 and PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 | genetic disease | | IAGP | (Homo sapiens) and (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 | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:17689125 more ... | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:10330341 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:21646031 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa2 | ClinVar | PMID:8733133 | glycogen storage disease IXA | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:25741868 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:7711737 | glycogen storage disease IXA | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:25741868 | glycogen storage disease IXA | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:10330341 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:25070466 and PMID:28492532 | glycogen storage disease IXA | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:21646031 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:21646031 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:17576681 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:10330341 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:28492532 | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: LIVER GLYCOGENOSIS more ... | ClinVar | PMID:10330341 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:28492532 and PMID:28627441 | glycogen storage disease IXA | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | | glycogen storage disease IXA | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:28492532 | glycogen storage disease IXA | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:17689125 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:28492532 and PMID:9870210 | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa2 | ClinVar | PMID:28492532 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:11286390 and PMID:28492532 | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:21857251 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa2 | ClinVar | PMID:10330341 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:21646031 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:10330341 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:28085675 and PMID:28492532 | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:21646031 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:25266922 and PMID:28492532 | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:21646031 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:10330341 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:28492532 and PMID:31987065 | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:28492532 and PMID:30659246 | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:10330341 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:17689125 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:11286390 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:17304053 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:21646031 and PMID:28492532 | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:25741868 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa2 | ClinVar | PMID:25741868 and PMID:9600238 | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:21646031 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:25741868 and PMID:31248825 | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:10330341 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa2 | ClinVar | PMID:25741868 and PMID:8733134 | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:10330341 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:28492532 and PMID:8733134 | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:25070466 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:17689125 more ... | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:17689125 and PMID:8733134 | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar | PMID:7847371 | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa2 | ClinVar | PMID:8733134 | glycogen storage disease IXA | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXa2 | ClinVar | PMID:25266922 more ... | glycogen storage disease IXD | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXd | ClinVar | PMID:10330341 more ... | glycogen storage disease VIII | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Phosphorylase kinase deficiency of liver | ClinVar | PMID:25741868 more ... | glycogen storage disease VIII | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Phosphorylase kinase deficiency of liver | ClinVar | PMID:17576681 more ... | glycogen storage disease VIII | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Phosphorylase kinase deficiency of liver | ClinVar | PMID:10330341 more ... | glycogen storage disease VIII | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Phosphorylase kinase deficiency of liver | ClinVar | PMID:25741868 and PMID:28492532 | Nance-Horan syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nance-Horan syndrome | ClinVar | PMID:17304053 more ... | Neurodevelopmental Disorders | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | Pyruvate Dehydrogenase E1 Alpha Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency | ClinVar | PMID:17172462 more ... | syndromic X-linked intellectual disability Lubs type | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:25741868 | |