Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | adenylosuccinase lyase deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency | ClinVar | PMID:28492532 | Emery-Dreifuss muscular dystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar | PMID:16783378 more ... | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | myoclonic dystonia 26 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myoclonic dystonia 26 | ClinVar | PMID:16783378 more ... | neurodegeneration with brain iron accumulation 2A | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy | ClinVar | PMID:16783378 more ... | |