Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | CIT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | intellectual disability | | ISO | CIT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | long QT syndrome | | ISO | CIT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Long QT syndrome | ClinVar | PMID:26132555 | Marfanoid Mental Retardation Syndrome, Autosomal | | ISO | CIT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability | ClinVar | PMID:25741868 | primary autosomal recessive microcephaly | | ISO | CIT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive primary microcephaly | ClinVar | PMID:25741915 more ... | primary autosomal recessive microcephaly 17 | | ISO | CIT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly 17 more ... | ClinVar | PMID:25741868 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
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