Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Aneurysm | | ISO | SMAD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aneurysm | ClinVar | PMID:25741868 | aortic aneurysm | | ISO | SMAD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aortic aneurysm | ClinVar | PMID:25741868 | aortic disease | | ISO | SMAD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial aortopathy | ClinVar | PMID:21778426 more ... | aortic dissection | | ISO | SMAD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ascending aortic dissection | ClinVar | PMID:16199547 more ... | aortic valve disease 2 | | ISO | SMAD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aortic valve disease 2 | ClinVar | PMID:28492532 | ARTERIAL DISSECTION | | ISO | SMAD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Arterial dissection | ClinVar | PMID:25741868 and PMID:28492532 | Bloom syndrome | | ISO | SMAD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bloom syndrome | ClinVar | PMID:28492532 | colorectal cancer | | ISO | SMAD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar | PMID:28492532 | connective tissue disease | | ISO | SMAD3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:21217753 more ... | coronary artery disease | | ISO | SMAD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Coronary artery disease | ClinVar | PMID:25741868 | Ehlers-Danlos syndrome | | ISO | SMAD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome | ClinVar | PMID:15350224 more ... | Familial Thoracic Aortic Aneurysm 1 | | ISO | SMAD3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | Familial Thoracic Aortic Aneurysm 6 | | ISO | SMAD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aortic aneurysm and familial thoracic 6 | ClinVar | PMID:25741868 | genetic disease | | ISO | SMAD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | Loeys-Dietz syndrome | | ISO | SMAD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar | PMID:17576681 more ... | Loeys-Dietz syndrome | | ISO | SMAD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar | PMID:16199547 more ... | Loeys-Dietz syndrome | | ISO | SMAD3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:21217753 more ... | Loeys-Dietz syndrome | | ISO | SMAD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar | PMID:21217753 more ... | Loeys-Dietz syndrome 3 | | ISO | SMAD3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15350224 more ... | lung cancer | | ISO | SMAD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lung cancer | ClinVar | PMID:21515830 more ... | neuronal ceroid lipofuscinosis | | ISO | SMAD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis | ClinVar | PMID:28492532 | thoracic aortic aneurysm | | ISO | SMAD3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10092624 more ... | thoracic aortic aneurysm | | ISO | SMAD3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10092624 more ... | thoracic aortic aneurysm | | ISO | SMAD3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10092624 more ... | |