Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | ISO | CAMK2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorders | ClinVar | PMID:25741868 | autosomal dominant intellectual developmental disorder 53 | | ISO | CAMK2A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25363768 more ... | autosomal recessive intellectual developmental disorder 63 | | ISO | CAMK2A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:29784083 | Developmental Disabilities | | ISO | CAMK2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868 and PMID:25741872 | familial adenomatous polyposis 1 | | ISO | CAMK2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial adenomatous polyposis 1 | ClinVar | PMID:17963004 more ... | genetic disease | | ISO | CAMK2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | Hereditary Neoplastic Syndromes | | ISO | CAMK2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:17963004 more ... | Hereditary Neoplastic Syndromes | | ISO | CAMK2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:18487285 more ... | intellectual disability | | ISO | CAMK2A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25363768 more ... | Larsen syndrome | | ISO | CAMK2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Larsen syndrome and dominant type | ClinVar | PMID:25741868 | Neurodevelopmental Disorders | | ISO | CAMK2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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