Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | common variable immunodeficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Common variable immunodeficiency | ClinVar | PMID:28492532 | congenital myasthenic syndrome 2A | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A | ClinVar | PMID:28492532 | developmental and epileptic encephalopathy 25 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 25 | ClinVar | PMID:28492532 | dyskeratosis congenita | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dyskeratosis congenita | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | very long chain acyl-CoA dehydrogenase deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency | ClinVar | PMID:11590124 more ... | very long chain acyl-CoA dehydrogenase deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency | ClinVar | PMID:28492532 | |