Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | familial adenomatous polyposis 1 | | ISO | PCSK1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial adenomatous polyposis 1 | ClinVar | PMID:17963004 more ... | genetic disease | | ISO | PCSK1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 | Hereditary Neoplastic Syndromes | | ISO | PCSK1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:17963004 more ... | Hereditary Neoplastic Syndromes | | ISO | PCSK1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar | PMID:18487285 more ... | Neurodevelopmental Disorders | | ISO | PCSK1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | obesity | | ISO | PCSK1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar | PMID:25741868 and PMID:28492532 | proprotein convertase 1/3 deficiency | | ISO | PCSK1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:14617756 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
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