Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | combined deficiency of vitamin K-dependent clotting factors 1 | | ISO | GGCX (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10934213 more ... | genetic disease | | ISO | GGCX (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | hemorrhagic disease | | ISO | GGCX (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormal bleeding | ClinVar | PMID:25741868 more ... | hereditary spastic paraplegia 31 | | ISO | GGCX (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 | ClinVar | PMID:18321925 more ... | Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency | | ISO | GGCX (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency | ClinVar | PMID:17110937 more ... | thrombocytopenia | | ISO | GGCX (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thrombocytopenia | ClinVar | PMID:25741868 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
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