Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Aicardi-Goutieres Syndrome 3 | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar | PMID:28492532 | autosomal dominant osteopetrosis 1 | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:1002767 more ... | autosomal dominant polycystic kidney disease | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar | PMID:25741868 and PMID:28492532 | Camurati-Engelmann disease | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diaphyseal dysplasia | ClinVar | PMID:25741868 | exudative vitreoretinopathy | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy | ClinVar | PMID:11719191 more ... | exudative vitreoretinopathy 1 | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11719191 more ... | exudative vitreoretinopathy 4 | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11719191 more ... | fundus dystrophy | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | PMID:11719191 more ... | genetic disease | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11719191 more ... | intellectual disability | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | Leber congenital amaurosis | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | PMID:28492532 | microcephaly | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 and PMID:28492532 | osteogenesis imperfecta | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar | PMID:11719191 more ... | osteogenesis imperfecta | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11719191 more ... | osteogenesis imperfecta | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar | PMID:11719191 more ... | osteopetrosis | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: High bone mass | ClinVar | PMID:11741193 more ... | osteoporosis | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11719191 more ... | osteoporosis | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11719191 more ... | osteoporosis-pseudoglioma syndrome | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11719191 more ... | osteosclerosis | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Osteosclerosis | ClinVar | PMID:11719191 more ... | polycystic kidney disease | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Polycystic kidney disease and adult type | ClinVar | PMID:25711638 more ... | polycystic kidney disease 1 | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Polycystic kidney disease 1 | ClinVar | PMID:25711638 more ... | polycystic liver disease | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital cystic disease of liver | ClinVar | PMID:25741868 more ... | Polycystic Liver Disease 1 | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:24706814 more ... | Polycystic Liver Disease 4 with or without Kidney Cysts | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11719191 more ... | Postmenopausal Osteoporosis | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Postmenopausal osteoporosis | ClinVar | PMID:24715757 more ... | Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Infections more ... | ClinVar | PMID:28492532 | Worth syndrome | | ISO | LRP5 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:1002767 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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