Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | focal epilepsy | | ISO | MMP9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Focal-onset seizure | ClinVar | PMID:32581362 | genetic disease | | ISO | MMP9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | Metaphyseal Anadysplasia 2 | | ISO | MMP9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Metaphyseal anadysplasia 2 | ClinVar | PMID:16631427 more ... | T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations | | ISO | MMP9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: T-cell immunodeficiency more ... | ClinVar | PMID:22174160 and PMID:28492532 | |