Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | NOTCH1 | Green Monkey | Adams-Oliver syndrome | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adams-Oliver syndrome | ClinVar | PMID:24728327 more ... | NOTCH1 | Green Monkey | Adams-Oliver Syndrome 2 | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adams-Oliver syndrome 2 | ClinVar | PMID:18593716 more ... | NOTCH1 | Green Monkey | Adams-Oliver Syndrome 5 | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12774039 more ... | NOTCH1 | Green Monkey | adenoid cystic carcinoma | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adenoid cystic carcinoma | ClinVar | | NOTCH1 | Green Monkey | adenoiditis | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chronic adenoiditis | ClinVar | PMID:25741868 and PMID:28492532 | NOTCH1 | Green Monkey | aortic valve disease | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AORTIC VALVE DISEASE | ClinVar | PMID:18593716 more ... | NOTCH1 | Green Monkey | aortic valve disease 1 | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15472075 more ... | NOTCH1 | Green Monkey | ARTERIAL DISSECTION | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Arterial dissection | ClinVar | PMID:25741868 and PMID:28492532 | NOTCH1 | Green Monkey | autosomal dominant intellectual developmental disorder 8 | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:28492532 | NOTCH1 | Green Monkey | autosomal dominant nocturnal frontal lobe epilepsy 5 | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar | PMID:28492532 | NOTCH1 | Green Monkey | bicuspid aortic valve disease | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bicuspid aortic valve | ClinVar | PMID:24728327 more ... | NOTCH1 | Green Monkey | Cardiovascular Abnormalities | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology | ClinVar | PMID:16025100 more ... | NOTCH1 | Green Monkey | cholesteatoma of middle ear | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cholesteatoma of middle ear | ClinVar | PMID:25741868 more ... | NOTCH1 | Green Monkey | congenital heart disease | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Heart and malformation of | ClinVar | PMID:17662764 more ... | NOTCH1 | Green Monkey | connective tissue disease | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15472075 more ... | NOTCH1 | Green Monkey | developmental and epileptic encephalopathy 14 | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16025100 more ... | NOTCH1 | Green Monkey | Ehlers-Danlos syndrome classic type 1 | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome more ... | ClinVar | PMID:28492532 and PMID:29907982 | NOTCH1 | Green Monkey | Ehlers-Danlos syndrome hypermobility type | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome and type 3 | ClinVar | PMID:28492532 | NOTCH1 | Green Monkey | epilepsy | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | | NOTCH1 | Green Monkey | esophageal atresia | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Esophageal atresia | ClinVar | | NOTCH1 | Green Monkey | Folate-Responsive Megaloblastic Anemia | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Megaloblastic anemia and folate-responsive | ClinVar | | NOTCH1 | Green Monkey | genetic disease | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:18660822 more ... | NOTCH1 | Green Monkey | hemangioma | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hemangioma | ClinVar | PMID:25741868 | NOTCH1 | Green Monkey | hypoplastic left heart syndrome | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypoplastic left heart syndrome | ClinVar | PMID:15472075 more ... | NOTCH1 | Green Monkey | Joubert syndrome 1 | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar | PMID:16025100 more ... | NOTCH1 | Green Monkey | keratoacanthoma | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Keratoacanthoma | ClinVar | PMID:27283355 | NOTCH1 | Green Monkey | Kleefstra syndrome 1 | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kleefstra syndrome 1 | ClinVar | PMID:19264732 more ... | NOTCH1 | Green Monkey | Leigh disease | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:28492532 | NOTCH1 | Green Monkey | lung non-small cell carcinoma | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Non-small cell lung carcinoma | ClinVar | PMID:20007775 more ... | NOTCH1 | Green Monkey | Marfan syndrome | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Marfan syndrome | ClinVar | PMID:15472075 more ... | NOTCH1 | Green Monkey | Marfanoid Hypermobility Syndrome | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Marfan syndrome type 1 | ClinVar | PMID:15472075 more ... | NOTCH1 | Green Monkey | microphthalmia | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar | PMID:25741868 more ... | NOTCH1 | Green Monkey | myeloproliferative neoplasm | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myeloproliferative neoplasm and unclassifiable | ClinVar | PMID:15472075 more ... | NOTCH1 | Green Monkey | primary coenzyme Q10 deficiency 7 | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | ClinVar | PMID:28492532 | NOTCH1 | Green Monkey | Pulmonary Arterial Hypertension | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar | PMID:15472075 more ... | NOTCH1 | Green Monkey | Rafiq syndrome | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rafiq syndrome | ClinVar | PMID:24566669 more ... | NOTCH1 | Green Monkey | SHONE COMPLEX | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Shone complex | ClinVar | PMID:25741868 and PMID:28492532 | NOTCH1 | Green Monkey | syndromic microphthalmia 5 | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome | ClinVar | PMID:25741868 more ... | NOTCH1 | Green Monkey | T-cell acute lymphoblastic leukemia | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia | ClinVar | | NOTCH1 | Green Monkey | tetralogy of Fallot | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tetralogy of Fallot | ClinVar | PMID:19597493 and PMID:27760138 | NOTCH1 | Green Monkey | thoracic aortic aneurysm | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16729972 more ... | NOTCH1 | Green Monkey | thoracic aortic aneurysm | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15472075 more ... | NOTCH1 | Green Monkey | thoracic aortic aneurysm | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15472075 more ... | NOTCH1 | Green Monkey | thoracic aortic aneurysm | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15472075 more ... | NOTCH1 | Green Monkey | thoracic aortic aneurysm | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16729972 more ... | NOTCH1 | Green Monkey | thoracic aortic aneurysm | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15472075 more ... | NOTCH1 | Green Monkey | thoracic aortic aneurysm | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15472075 more ... | NOTCH1 | Green Monkey | thoracic aortic aneurysm | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16729972 more ... | NOTCH1 | Green Monkey | thoracic aortic aneurysm | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16729972 more ... | NOTCH1 | Green Monkey | thoracic aortic aneurysm | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16729972 more ... | NOTCH1 | Green Monkey | thoracic aortic aneurysm | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15472075 more ... | NOTCH1 | Green Monkey | thoracic aortic aneurysm | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15472075 more ... | NOTCH1 | Green Monkey | thoracic aortic aneurysm | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16729972 more ... | NOTCH1 | Green Monkey | tuberous sclerosis 1 | | ISO | NOTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tuberous sclerosis 1 | ClinVar | PMID:28492532 | |