Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Chromosome 11, Partial Trisomy 11q | | ISO | STT3A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Distal trisomy 11q | ClinVar | PMID:25741868 | congenital disorder of glycosylation Iw | | ISO | STT3A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:23842455 more ... | Dwarfism | | ISO | STT3A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short stature | ClinVar | PMID:32581362 | genetic disease | | ISO | STT3A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | holoprosencephaly 11 | | ISO | STT3A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Holoprosencephaly 11 | ClinVar | PMID:28492532 | Jacobsen Syndrome | | ISO | STT3A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia | ClinVar | PMID:32581362 | microcephaly | | ISO | STT3A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 and PMID:28492532 | schizophrenia | | ISO | STT3A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | PMID:21681106 and PMID:30208311 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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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