Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal dominant intellectual developmental disorder 21 | | ISO | KIF11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | ClinVar | PMID:25741868 | Developmental Disease | | ISO | KIF11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:25741868 | fundus dystrophy | | ISO | KIF11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | PMID:28492532 and PMID:30452590 | genetic disease | | ISO | KIF11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:15930898 more ... | intellectual disability | | ISO | KIF11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 and PMID:28492532 | long QT syndrome | | ISO | KIF11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Long QT syndrome | ClinVar | PMID:26132555 | microcephaly | | ISO | KIF11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | microcephaly and chorioretinopathy 1 | | ISO | KIF11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly and chorioretinopathy more ... | ClinVar | PMID:25741868 | microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | | ISO | KIF11 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15930898 more ... | Neurodevelopmental Disorders | | ISO | KIF11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | neutropenia | | ISO | KIF11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neutropenia | ClinVar | PMID:25741868 and PMID:28492532 | retinitis pigmentosa | | ISO | KIF11 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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