Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | ISO | MEF2C (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:20513142 more ... | autosomal dominant nocturnal frontal lobe epilepsy | | ISO | MEF2C (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar | | epilepsy | | ISO | MEF2C (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 | familial adenomatous polyposis 1 | | ISO | MEF2C (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial adenomatous polyposis 1 | ClinVar | PMID:17963004 more ... | frontotemporal dementia | | ISO | MEF2C (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar | | Generalized Epilepsy | | ISO | MEF2C (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar | PMID:32581362 | genetic disease | | ISO | MEF2C (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:18414213 more ... | genetic disease | | ISO | MEF2C (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18414213 more ... | Hereditary Neoplastic Syndromes | | ISO | MEF2C (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:17963004 more ... | intellectual disability | | ISO | MEF2C (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:20513142 more ... | neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | | ISO | MEF2C (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | Neurodevelopmental Disorders | | ISO | MEF2C (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:20513142 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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