Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | IL6ST (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | hyper IgE recurrent infection syndrome 1 | | ISO | IL6ST (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1 and autosomal dominant | ClinVar | PMID:25741868 and PMID:32207811 | hyper IgE recurrent infection syndrome 4 | | ISO | IL6ST (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies | | ISO | IL6ST (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 94 with autoinflammation and dysmorphic facies | ClinVar | PMID:19020503 more ... | Neurodevelopmental Disorders | | ISO | IL6ST (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | Stuve-Wiedemann Syndrome | | ISO | IL6ST (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Stuve-Wiedemann syndrome | ClinVar | PMID:25741868 and PMID:31914175 | Stuve-Wiedemann Syndrome 2 | | ISO | IL6ST (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 | ClinVar | PMID:25741868 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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Imported Disease Annotations - OMIM
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