Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 16p11.2 Deletion Syndrome | | ISO | RGD:731640 | 8554872 | ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar | PMID:25741868 more ... | Brody myopathy | | ISO | RGD:731640 | 8554872 | ClinVar Annotator: match by term: Brody myopathy | ClinVar | PMID:10914677 more ... | chromosome 16p11.2 deletion syndrome | | ISO | RGD:731640 | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | genetic disease | | ISO | RGD:731640 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | neuronal ceroid lipofuscinosis | | ISO | RGD:731640 | 8554872 | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis | ClinVar | PMID:28492532 more ... | schizophrenia | | ISO | RGD:731640 | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | PMID:21681106, PMID:30208311 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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