Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autoimmune lymphoproliferative syndrome type 2B | | ISO | BMPR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B | ClinVar | PMID:11343122 more ... | Autoimmune Lymphoproliferative Syndrome, Type V | | ISO | BMPR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V | ClinVar | PMID:11343122 more ... | common variable immunodeficiency 1 | | ISO | BMPR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency more ... | ClinVar | PMID:11343122 more ... | Developmental Disease | | ISO | BMPR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:25741868 | epilepsy | | ISO | BMPR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:12358323 more ... | fibrodysplasia ossificans progressiva | | ISO | BMPR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Progressive myositis ossificans | ClinVar | | genetic disease | | ISO | BMPR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:24033266 more ... | hereditary breast ovarian cancer syndrome | | ISO | BMPR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar | PMID:18356561 more ... | hereditary breast ovarian cancer syndrome | | ISO | BMPR2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18356561 more ... | Neurodevelopmental Disorders | | ISO | BMPR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | primary ovarian insufficiency 16 | | ISO | BMPR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar | PMID:18356561 more ... | primary pulmonary hypertension | | ISO | BMPR2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10903931 more ... | Primary Pulmonary Hypertension, 1 | | ISO | BMPR2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10903931 more ... | Pulmonary Arterial Hypertension | | ISO | BMPR2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10903931 more ... | pulmonary venoocclusive disease 1 | | ISO | BMPR2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10903931 more ... | pulmonary venoocclusive disease 2 | | ISO | BMPR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis | ClinVar | PMID:18626305 and PMID:24292273 | Selective Tooth Agenesis 1 | | ISO | BMPR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tooth agenesis more ... | ClinVar | PMID:19555857 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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