Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:18184952 and PMID:25255310 | autistic disorder | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | chromosome 16p11.2 deletion syndrome, 593-kb | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome | ClinVar | PMID:31690835 | chromosome 16p11.2 deletion syndrome, 593-kb | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome | ClinVar | | chromosome 16p11.2 deletion syndrome, 593-kb | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome | ClinVar | PMID:25741868 | chromosome 16p11.2 duplication syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome | ClinVar | PMID:31690835 | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | Neurodevelopmental Disorders | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | schizophrenia | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | PMID:21681106 and PMID:30208311 | spondylocostal dysostosis 5 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 | ClinVar | PMID:23335591 more ... | |