Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | ISO | KDM3B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:25741868 | autosomal dominant intellectual developmental disorder 31 | | ISO | KDM3B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY more ... | ClinVar | PMID:28492532 | Developmental Disabilities | | ISO | KDM3B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | | Developmental Disease | | ISO | KDM3B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:25741868 | Diets-Jongmans Syndrome | | ISO | KDM3B (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | epilepsy | | ISO | KDM3B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rare genetic epilepsy | ClinVar | PMID:25741868 | familial adenomatous polyposis 1 | | ISO | KDM3B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial adenomatous polyposis 1 | ClinVar | PMID:17963004 more ... | genetic disease | | ISO | KDM3B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | Hereditary Neoplastic Syndromes | | ISO | KDM3B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:17963004 more ... | Neurodevelopmental Disorders | | ISO | KDM3B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | STING-associated vasculopathy with onset in infancy | | ISO | KDM3B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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