Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | arteriovenous malformations of the brain | | ISO | NOTCH4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebral arteriovenous malformation | ClinVar | PMID:25741868 and PMID:27231971 | genetic disease | | ISO | NOTCH4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | Hirschsprung's disease | | ISO | NOTCH4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar | | proteasome-associated autoinflammatory syndrome 1 | | ISO | NOTCH4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 | ClinVar | PMID:28492532 | syndromic microphthalmia 5 | | ISO | NOTCH4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome | ClinVar | PMID:26893459 and PMID:28492532 | |