Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | acute myeloid leukemia | | ISO | TEK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar | PMID:19340004 and PMID:28492532 | Blue Rubber Bleb Nevus Syndrome | | ISO | TEK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Blue rubber bleb nevus | ClinVar | PMID:10369874 more ... | BOCKENHEIMER SYNDROME | | ISO | TEK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bockenheimer syndrome | ClinVar | PMID:25741868 | Cardiovascular Abnormalities | | ISO | TEK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology | ClinVar | PMID:10369874 more ... | genetic disease | | ISO | TEK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | multiple cutaneous and mucosal venous malformations | | ISO | TEK (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10369874 more ... | Primary Congenital Glaucoma 3, E | | ISO | TEK (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | Vascular Malformations | | ISO | TEK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Vascular malformation | ClinVar | PMID:25741868 | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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