Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | cortical dysplasia-focal epilepsy syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome | ClinVar | PMID:16571880 more ... | cortical dysplasia-focal epilepsy syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25954003 more ... | genetic disease | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25741868 | lymphoma | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lymphoma | ClinVar | PMID:23023262 | lymphoma | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Lymphoma | ClinVar | PMID:23023262 and PMID:26619011 | lymphoma | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lymphoma | ClinVar | PMID:23023262 more ... | Neurodevelopmental Disorders | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | non-Hodgkin lymphoma | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Non-Hodgkin lymphoma | ClinVar | PMID:23023262 more ... | non-Hodgkin lymphoma | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Non-Hodgkin lymphoma | ClinVar | PMID:23023262 and PMID:26619011 | non-Hodgkin lymphoma | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Non-Hodgkin lymphoma | ClinVar | PMID:26619011 | skin melanoma | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant melanoma of skin | ClinVar | PMID:23023262 more ... | skin melanoma | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Malignant melanoma of skin | ClinVar | PMID:23023262 and PMID:26619011 | skin melanoma | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant melanoma of skin | ClinVar | PMID:26619011 | Weaver syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:18414213 more ... | Weaver syndrome | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:24214728 and PMID:28492532 | Weaver syndrome | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:30613354 | Weaver syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:17576681 more ... | Weaver syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:25741868 | Weaver syndrome | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:18414213 and PMID:28492532 | Weaver syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:25954003 more ... | Weaver syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:18414213 more ... | Weaver syndrome | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:22177091 | Weaver syndrome | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:18414213 | Weaver syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:22190405 more ... | Weaver syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:28492532 | Weaver syndrome | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:24728327 and PMID:28492532 | Weaver syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:28492532 | Weaver syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | | Weaver syndrome | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:24728327 more ... | Weaver syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:25741868 and PMID:28492532 | Weaver syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:28492532 | Weaver syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:28492532 and PMID:32243864 | Weaver syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:22190405 more ... | Weaver syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:25741868 more ... | Weaver syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:18414213 and PMID:25741868 | Weaver syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:26380986 and PMID:28492532 | Weaver syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:22190405 and PMID:28492532 | Weaver syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:18414213 more ... | Weaver syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:24214728 | Weaver syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:22177091 and PMID:4366187 | |