Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | cystic fibrosis | | ISO | MBL2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cystic fibrosis | ClinVar | PMID:10071515 more ... | Familial Thoracic Aortic Aneurysm 8 | | ISO | MBL2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aortic aneurysm and familial thoracic 8 | ClinVar | PMID:28492532 | genetic disease | | ISO | MBL2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | Mannose-Binding Protein Deficiency | | ISO | MBL2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mannose-binding lectin deficiency | ClinVar | PMID:10071515 more ... | |