Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:23434115 more ... | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | hemorrhagic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormal bleeding | ClinVar | PMID:25741868 and PMID:31064749 | hemorrhagic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormal bleeding | ClinVar | PMID:25741868 | platelet-type bleeding disorder 15 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 | ClinVar | PMID:23434115 | platelet-type bleeding disorder 15 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 | ClinVar | | platelet-type bleeding disorder 15 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 | ClinVar | PMID:23434115 more ... | platelet-type bleeding disorder 15 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 | ClinVar | PMID:25741868 more ... | platelet-type bleeding disorder 15 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 | ClinVar | PMID:25741868 more ... | platelet-type bleeding disorder 15 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 | ClinVar | PMID:25741868 | platelet-type bleeding disorder 15 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 | ClinVar | PMID:23434115 more ... | platelet-type bleeding disorder 15 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 | ClinVar | PMID:25741868 and PMID:31237726 | platelet-type bleeding disorder 15 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 | ClinVar | PMID:25741868 and PMID:31064749 | platelet-type bleeding disorder 15 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 | ClinVar | PMID:28492532 | platelet-type bleeding disorder 15 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 | ClinVar | PMID:23434115 more ... | platelet-type bleeding disorder 15 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | platelet-type bleeding disorder 15 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: ACTN1-related condition | ClinVar | PMID:17576681 more ... | platelet-type bleeding disorder 15 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: ACTN1-related condition | ClinVar | PMID:25741868 more ... | platelet-type bleeding disorder 15 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 | ClinVar | PMID:23434115 more ... | platelet-type bleeding disorder 15 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 | ClinVar | PMID:25741868 more ... | platelet-type bleeding disorder 15 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 | ClinVar | PMID:23434115 more ... | platelet-type bleeding disorder 15 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 | ClinVar | PMID:25949529 and PMID:28562514 | platelet-type bleeding disorder 15 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 | ClinVar | PMID:25741868 more ... | platelet-type bleeding disorder 15 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 | ClinVar | PMID:23434115 more ... | platelet-type bleeding disorder 15 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 | ClinVar | PMID:25741868 and PMID:34355501 | platelet-type bleeding disorder 15 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 | ClinVar | PMID:23434115 more ... | thrombocytopenia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thrombocytopenia | ClinVar | PMID:25741868 more ... | thrombocytopenia | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Thrombocytopenia | ClinVar | PMID:25741868 and PMID:31064749 | thrombocytopenia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thrombocytopenia | ClinVar | PMID:23434115 more ... | thrombocytopenia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thrombocytopenia | ClinVar | PMID:25741868 more ... | |