Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | acute myeloid leukemia | | ISO | GATA2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:20040766 more ... | acute myeloid leukemia | | ISO | GATA2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:20040766 more ... | alkaptonuria | | ISO | GATA2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alkaptonuria | ClinVar | PMID:12501223 more ... | anemia | | ISO | GATA2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anemia | ClinVar | PMID:25741868 and PMID:28492532 | genetic disease | | ISO | GATA2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | Hereditary Neoplastic Syndromes | | ISO | GATA2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:21670465 more ... | immunodeficiency 21 | | ISO | GATA2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | myelodysplastic syndrome | | ISO | GATA2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:20040766 more ... | Primary Lymphedema with Myelodysplasia | | ISO | GATA2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | Splenomegaly | | ISO | GATA2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Enlarged Spleen | ClinVar | PMID:25741868 and PMID:28492532 | |