Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:25741868 | autosomal dominant intellectual developmental disorder 31 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mental retardation and autosomal dominant 31 | ClinVar | PMID:28492532 | autosomal dominant intellectual developmental disorder 31 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY more ... | ClinVar | PMID:28492532 | Developmental Disabilities | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | | Developmental Disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:25741868 | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diets-Jongmans syndrome | ClinVar | PMID:25741868 | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diets-Jongmans syndrome | ClinVar | PMID:25741868 | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diets-Jongmans syndrome | ClinVar | PMID:25741868 | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diets-Jongmans syndrome | ClinVar | PMID:25741868 | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diets-Jongmans syndrome | ClinVar | | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diets-Jongmans syndrome | ClinVar | | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diets-Jongmans syndrome | ClinVar | PMID:25741868 | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diets-Jongmans syndrome | ClinVar | PMID:25741868 | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diets-Jongmans syndrome | ClinVar | PMID:25741868 | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diets-Jongmans syndrome | ClinVar | PMID:25741868 | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diets-Jongmans syndrome | ClinVar | PMID:25741868 | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diets-Jongmans syndrome | ClinVar | PMID:25741868 | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diets-Jongmans syndrome | ClinVar | PMID:25741868 | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diets-Jongmans syndrome | ClinVar | PMID:25741868 | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diets-Jongmans syndrome | ClinVar | PMID:25741868 | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diets-Jongmans syndrome | ClinVar | PMID:25741868 | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diets-Jongmans syndrome | ClinVar | PMID:25741868 | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: DIETS-JONGMANS SYNDROME | ClinVar | | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: DIETS-JONGMANS SYNDROME | ClinVar | PMID:29351919 and PMID:30929739 | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: DIETS-JONGMANS SYNDROME | ClinVar | PMID:29351919 and PMID:30929739 | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: DIETS-JONGMANS SYNDROME | ClinVar | PMID:30929739 | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: DIETS-JONGMANS SYNDROME | ClinVar | PMID:30929739 | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: DIETS-JONGMANS SYNDROME | ClinVar | PMID:30929739 | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diets-Jongmans syndrome | ClinVar | | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diets-Jongmans syndrome | ClinVar | PMID:25741868 | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diets-Jongmans syndrome | ClinVar | PMID:25741868 | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: DIETS-JONGMANS SYNDROME | ClinVar | PMID:25741868 | Diets-Jongmans Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diets-Jongmans syndrome | ClinVar | PMID:25741868 | epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rare genetic epilepsy | ClinVar | PMID:25741868 | familial adenomatous polyposis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial adenomatous polyposis 1 | ClinVar | PMID:17963004 more ... | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:30929739 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (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 | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (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 | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (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 | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:17963004 more ... | Neurodevelopmental Disorders | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | Neurodevelopmental Disorders | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | Neurodevelopmental Disorders | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | STING-associated vasculopathy with onset in infancy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy | ClinVar | PMID:28492532 | |