Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | connective tissue disease | | ISO | WNT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868 | genetic disease | | ISO | WNT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:22653731 more ... | keratoconus | | ISO | WNT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Keratoconus | ClinVar | PMID:23434763 | osteogenesis imperfecta | | ISO | WNT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar | PMID:23434763 more ... | osteogenesis imperfecta type 15 | | ISO | WNT1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:22653731 more ... | osteogenesis imperfecta type 3 | | ISO | WNT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Osteogenesis imperfecta type III | ClinVar | PMID:25741868 more ... | osteoporosis | | ISO | WNT1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:23499309 more ... | |