Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | ISO | CHD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorders | ClinVar | PMID:25741868 | autistic disorder | | ISO | CHD3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 | common variable immunodeficiency | | ISO | CHD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Common variable immunodeficiency | ClinVar | PMID:28492532 | Developmental Disabilities | | ISO | CHD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868 and PMID:30397230 | Developmental Disease | | ISO | CHD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:25741868 | Diamond-Blackfan anemia | | ISO | CHD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:20522432 more ... | dyskeratosis congenita | | ISO | CHD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dyskeratosis congenita | ClinVar | PMID:20522432 more ... | epilepsy | | ISO | CHD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | | genetic disease | | ISO | CHD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:15988005 more ... | intellectual disability | | ISO | CHD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 more ... | Li-Fraumeni syndrome | | ISO | CHD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar | PMID:20522432 more ... | Marfanoid Mental Retardation Syndrome, Autosomal | | ISO | CHD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability | ClinVar | PMID:25741868 and PMID:30397230 | Neurodevelopmental Disorders | | ISO | CHD3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:30397230 | Snijders Blok-Campeau Syndrome | | ISO | CHD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome | ClinVar | PMID:22495309 more ... | very long chain acyl-CoA dehydrogenase deficiency | | ISO | CHD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency | ClinVar | PMID:11590124 more ... | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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