Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 46, XX Disorders of Sex Development | | ISO | TYRO3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: 46 and XX disorder of sex development | ClinVar | | Bloom syndrome | | ISO | TYRO3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bloom syndrome | ClinVar | PMID:28492532 | colorectal cancer | | ISO | TYRO3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar | PMID:28492532 | genetic disease | | ISO | TYRO3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | hereditary breast ovarian cancer syndrome | | ISO | TYRO3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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