Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Beck-Fahrner Syndrome | | ISO | RGD:2291813 | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | congenital disorder of glycosylation type IIb | | ISO | RGD:2291813 | 8554872 | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb | ClinVar | PMID:24716661 more ... | Developmental Disabilities | | ISO | RGD:2291813 | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | | Developmental Disease | | ISO | RGD:2291813 | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:25741868 | dystonia | | ISO | RGD:2291813 | 8554872 | ClinVar Annotator: match by term: Dystonia | ClinVar | PMID:16697227 more ... | genetic disease | | ISO | RGD:2291813 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868, PMID:31928709 | intellectual disability | | ISO | RGD:2291813 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:30167849, PMID:31928709 | Methylmalonyl-CoA Epimerase Deficiency | | ISO | RGD:2291813 | 8554872 | ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III | ClinVar | PMID:16697227 more ... | multiple mitochondrial dysfunctions syndrome 2 | | ISO | RGD:2291813 | 8554872 | ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2 | ClinVar | | multiple myeloma | | ISO | RGD:2291813 | 8554872 | ClinVar Annotator: match by term: Multiple myeloma | ClinVar | | Neurodevelopmental Disorders | | ISO | RGD:2291813 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
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