Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | breast cancer | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar | PMID:25741868 more ... | Breast Neoplasms | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10479724 more ... | Breast Neoplasms | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Breast Neoplasms | ClinVar | PMID:10479724 more ... | Breast Neoplasms | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Breast Neoplasms | ClinVar | PMID:10479724 more ... | colon carcinoma | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10398437 more ... | colorectal cancer | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar | PMID:28492532 | Colorectal Neoplasms | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Colorectal Neoplasms | ClinVar | PMID:10479724 more ... | Cronkhite-Canada syndrome | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gastrointestinal polyposis | ClinVar | PMID:21835029 more ... | esophageal carcinoma | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Esophageal carcinoma | ClinVar | PMID:10479724 more ... | esophageal carcinoma | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Esophageal carcinoma | ClinVar | PMID:10479724 more ... | gallbladder cancer | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gallbladder cancer | ClinVar | PMID:10479724 more ... | gastric adenocarcinoma | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar | PMID:10479724 more ... | genetic disease | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11977156 more ... | Growth Mental Deficiency Syndrome of Myhre | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10398437 more ... | Growth Mental Deficiency Syndrome of Myhre | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10398437 more ... | head and neck squamous cell carcinoma | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar | PMID:10479724 more ... | hemorrhagic disease | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormal bleeding | ClinVar | | hereditary breast ovarian cancer syndrome | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar | PMID:25741868 | hereditary hemorrhagic telangiectasia | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome | ClinVar | PMID:25741868 and PMID:28492532 | Hereditary Hemorrhagic Telangiectasia, Type 1 | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Telangiectasia more ... | ClinVar | | Hereditary Neoplastic Syndromes | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10398437 more ... | Hereditary Neoplastic Syndromes | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10398437 more ... | Hereditary Neoplastic Syndromes | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10398437 more ... | Hereditary Neoplastic Syndromes | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10398437 more ... | Hereditary Neoplastic Syndromes | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10398437 more ... | intellectual disability | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11977156 more ... | juvenile polyposis syndrome | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10398437 more ... | juvenile polyposis syndrome | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10398437 more ... | juvenile polyposis syndrome | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10398437 more ... | juvenile polyposis syndrome | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10398437 more ... | juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10398437 more ... | lung adenocarcinoma | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10479724 more ... | lung adenocarcinoma | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar | PMID:10479724 more ... | lung cancer | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lung cancer | ClinVar | PMID:21515830 more ... | nephroblastoma | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nephroblastoma | ClinVar | PMID:25741868 and PMID:28492532 | pancreatic adenocarcinoma | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pancreatic adenocarcinoma | ClinVar | PMID:10479724 more ... | pancreatic carcinoma | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10398437 more ... | Primary Pulmonary Hypertension, 1 | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:21898662 more ... | prostate adenocarcinoma | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Prostate adenocarcinoma | ClinVar | PMID:12116240 more ... | Pulmonary Arterial Hypertension | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar | PMID:25559809 more ... | stomach cancer | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gastric cancer | ClinVar | PMID:36988593 | thoracic aortic aneurysm | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10398437 more ... | thoracic aortic aneurysm | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10398437 more ... | thoracic aortic aneurysm | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10398437 more ... | thoracic aortic aneurysm | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10398437 more ... | thoracic aortic aneurysm | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10398437 more ... | thoracic aortic aneurysm | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10398437 more ... | thoracic aortic aneurysm | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10790223 more ... | Uterine Cervical Neoplasms | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar | PMID:10479724 more ... | Uterine Cervical Neoplasms | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar | PMID:10479724 more ... | vascular dementia | | ISO | SMAD4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Vascular dementia | ClinVar | PMID:28492532 and PMID:35307828 | |