Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal dominant thrombophilia due to protein S deficiency | | ISO | PROS1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10447256 more ... | autosomal recessive thrombophilia due to protein S deficiency | | ISO | PROS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency and autosomal recessive | ClinVar | PMID:10063989 more ... | genetic disease | | ISO | PROS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10077735 more ... | hemorrhagic disease | | ISO | PROS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormal bleeding | ClinVar | PMID:20880255 more ... | Joubert syndrome 8 | | ISO | PROS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 8 | ClinVar | PMID:28492532 | nephrotic syndrome type 1 | | ISO | PROS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar | PMID:11127877 more ... | protein S deficiency | | ISO | PROS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Protein S deficiency disease | ClinVar | PMID:10447256 more ... | Thromboembolism | | ISO | PROS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thromboembolism | ClinVar | PMID:25741868 more ... | Venous Thrombosis | | ISO | PROS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deep venous thrombosis | ClinVar | PMID:12351389 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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