Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | GFI1B | Green Monkey | developmental and epileptic encephalopathy | | ISO | GFI1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar | PMID:28492532 | GFI1B | Green Monkey | developmental and epileptic encephalopathy 14 | | ISO | GFI1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 14 | ClinVar | PMID:28492532 | GFI1B | Green Monkey | early infantile epileptic encephalopathy | | ISO | GFI1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar | PMID:28492532 | GFI1B | Green Monkey | Ehlers-Danlos syndrome classic type 1 | | ISO | GFI1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome and type 1 | ClinVar | PMID:28492532 | GFI1B | Green Monkey | genetic disease | | ISO | GFI1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | GFI1B | Green Monkey | hemorrhagic disease | | ISO | GFI1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormal bleeding | ClinVar | | GFI1B | Green Monkey | Hereditary Neoplastic Syndromes | | ISO | GFI1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:28492532 | GFI1B | Green Monkey | Leigh disease | | ISO | GFI1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:28492532 | GFI1B | Green Monkey | platelet storage pool deficiency | | ISO | GFI1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Storage pool disease of platelets | ClinVar | PMID:25741868 | GFI1B | Green Monkey | platelet-type bleeding disorder 17 | | ISO | GFI1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Platelet-type bleeding disorder 17 | ClinVar | PMID:1065298 more ... | GFI1B | Green Monkey | primary coenzyme Q10 deficiency 7 | | ISO | GFI1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | ClinVar | PMID:28492532 | GFI1B | Green Monkey | Rafiq syndrome | | ISO | GFI1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rafiq syndrome | ClinVar | PMID:28492532 | GFI1B | Green Monkey | thrombocytopenia | | ISO | GFI1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thrombocytopenia | ClinVar | PMID:25741868 and PMID:31064749 | GFI1B | Green Monkey | tuberous sclerosis 1 | | ISO | GFI1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tuberous sclerosis 1 | ClinVar | PMID:25741868 and PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
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