Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | atrophoderma vermiculata | | ISO | LRP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Atrophoderma vermiculata | ClinVar | PMID:26142438 | Burnett Schwartz Berberian Syndrome | | ISO | LRP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Keratosis pilaris | ClinVar | PMID:25741868 more ... | Developmental Disabilities | | ISO | LRP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868 | Developmental Disease | | ISO | LRP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:15294142 and PMID:25741868 | Developmental Dysplasia of the Hip 3 | | ISO | LRP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental dysplasia of the hip 3 | ClinVar | PMID:36067312 | familial melanoma | | ISO | LRP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial melanoma | ClinVar | PMID:28492532 | genetic disease | | ISO | LRP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | keratosis pilaris atrophicans | | ISO | LRP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Keratosis pilaris atrophicans | ClinVar | PMID:25741868 | prostate cancer | | ISO | LRP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar | | tricuspid atresia | | ISO | LRP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tricuspid atresia | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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Imported Disease Annotations - OMIM
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