Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal dominant thrombophilia due to protein C deficiency | | ISO | PROC (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10669160 more ... | autosomal recessive limb-girdle muscular dystrophy type 2W | | ISO | PROC (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W | ClinVar | PMID:28492532 | autosomal recessive thrombophilia due to protein C deficiency | | ISO | PROC (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency and autosomal recessive | ClinVar | PMID:10669160 more ... | centronuclear myopathy 2 | | ISO | PROC (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myopathy more ... | ClinVar | PMID:28492532 | cerebral palsy | | ISO | PROC (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebral palsy | ClinVar | PMID:1347706 more ... | Congenital Thrombotic Disease, due to Protein C Deficiency | | ISO | PROC (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Reduced protein C activity | ClinVar | PMID:10805275 more ... | genetic disease | | ISO | PROC (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:18954896 more ... | Thromboembolism | | ISO | PROC (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thromboembolism | ClinVar | PMID:1868249 more ... | Venous Thrombosis | | ISO | PROC (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17152060 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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