Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | autoimmune polyendocrine syndrome type 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Polyglandular autoimmune syndrome and type 1 | ClinVar | PMID:28492532 | cataract 9 multiple types | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cataract 9 multiple types | ClinVar | PMID:28492532 | developmental and epileptic encephalopathy 30 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 30 | ClinVar | PMID:28492532 and PMID:8596935 | developmental and epileptic encephalopathy 30 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 30 | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | homocystinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA more ... | ClinVar | PMID:10338090 more ... | Neurodevelopmental Disorders | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | primary ciliary dyskinesia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary ciliary dyskinesia | ClinVar | PMID:28492532 | progressive myoclonus epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar | PMID:28492532 and PMID:8596935 | |