Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Ehlers-Danlos syndrome classic type 1 | | ISO | RAPGEF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome and classic type | ClinVar | PMID:28492532 | genetic disease | | ISO | RAPGEF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | Monoclonal B-Cell Lymphocytosis | | ISO | RAPGEF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis | ClinVar | | primary coenzyme Q10 deficiency 7 | | ISO | RAPGEF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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