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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | aortic aneurysm | | ISO | TGFB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aortic aneurysm | ClinVar | PMID:22772371 more ... | aortic disease | | ISO | TGFB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial aortopathy | ClinVar | PMID:22772368 more ... | atrial heart septal defect 1 | | ISO | TGFB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Atrial septal defect 1 | ClinVar | | connective tissue disease | | ISO | TGFB2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | Ehlers-Danlos syndrome | | ISO | TGFB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome | ClinVar | PMID:22772371 more ... | gastrointestinal stromal tumor | | ISO | TGFB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar | PMID:28492532 | genetic disease | | ISO | TGFB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:22772368 more ... | Hirschsprung Disease 1 | | ISO | TGFB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hirschsprung disease 1 | ClinVar | PMID:25741868 more ... | Hirschsprung's disease | | ISO | TGFB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hirschsprung disease more ... | ClinVar | PMID:25741868 more ... | Holt-Oram syndrome | | ISO | TGFB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Holt-Oram syndrome | ClinVar | PMID:24465802 more ... | Loeys-Dietz syndrome | | ISO | TGFB2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10611753 more ... | Loeys-Dietz syndrome 4 | | ISO | TGFB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 | ClinVar | PMID:10611753 more ... | lung adenocarcinoma | | ISO | TGFB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lung adenocarcinoma | ClinVar | PMID:27993330 | Martsolf Syndrome | | ISO | TGFB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Martsolf syndrome | ClinVar | PMID:23420520 and PMID:28492532 | parathyroid carcinoma | | ISO | TGFB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Parathyroid carcinoma | ClinVar | PMID:28492532 | thoracic aortic aneurysm | | ISO | TGFB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections | ClinVar | PMID:22772368 more ... | thoracic aortic aneurysm | | ISO | TGFB2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10611753 more ... | thoracic aortic aneurysm | | ISO | TGFB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections | ClinVar | PMID:10611753 more ... | Usher syndrome | | ISO | TGFB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Usher syndrome | ClinVar | PMID:28041643 | |