Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Charcot-Marie-Tooth disease dominant intermediate C | | ISO | MPL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C | ClinVar | PMID:28492532 | congenital amegakaryocytic thrombocytopenia | | ISO | MPL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia | ClinVar | PMID:10077649 more ... | essential thrombocythemia | | ISO | MPL (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10971406 more ... | genetic disease | | ISO | MPL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:15531462 more ... | Hematologic Neoplasms | | ISO | MPL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hematologic neoplasm | ClinVar | PMID:16834459 more ... | hemorrhagic disease | | ISO | MPL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormal bleeding | ClinVar | PMID:11972523 more ... | myelofibrosis | | ISO | MPL (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10971406 more ... | myeloproliferative neoplasm | | ISO | MPL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myeloproliferative neoplasm | ClinVar | PMID:14764528 more ... | Thrombocythemia 2 | | ISO | MPL (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11133753 more ... | thrombocytopenia | | ISO | MPL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thrombocytopenia | ClinVar | PMID:10971406 more ... | Thrombocytosis, Benign Familial Microcytic | | ISO | MPL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thrombocytosis and benign familial microcytic | ClinVar | PMID:11133753 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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