Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal dominant intellectual developmental disorder 6 | | ISO | LRP6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability and autosomal dominant 6 | ClinVar | PMID:28492532 | autosomal dominant polycystic kidney disease | | ISO | LRP6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar | PMID:25741868 and PMID:28492532 | coronary artery disease | | ISO | LRP6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Coronary artery disease | ClinVar | PMID:28492532 | Coronary Artery Disease, Autosomal Dominant 2 | | ISO | LRP6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Coronary artery disease and autosomal dominant 2 | ClinVar | PMID:17332414 more ... | Dwarfism | | ISO | LRP6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short stature | ClinVar | PMID:25741868 | genetic disease | | ISO | LRP6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | keratoconus | | ISO | LRP6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Keratoconus | ClinVar | | orofacial cleft | | ISO | LRP6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Orofacial cleft | ClinVar | PMID:22813217 more ... | polycystic liver disease | | ISO | LRP6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital cystic disease of liver | ClinVar | PMID:26901136 and PMID:28492532 | Polycystic Liver Disease 1 | | ISO | LRP6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar | PMID:26901136 and PMID:28492532 | prostate cancer | | ISO | LRP6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar | PMID:23265383 | Selective Tooth Agenesis 7 | | ISO | LRP6 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17332414 more ... | tooth agenesis | | ISO | LRP6 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:22813217 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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