Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | ISO | NR3C2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:30763456 and PMID:9662404 | autistic disorder | | ISO | NR3C2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | autosomal dominant pseudohypoaldosteronism type 1 | | ISO | NR3C2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11134129 more ... | genetic disease | | ISO | NR3C2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy | | ISO | NR3C2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10884226 more ... | methylmalonic acidemia cblA type | | ISO | NR3C2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Methylmalonic aciduria and cblA type | ClinVar | PMID:15523652 more ... | myoepithelioma | | ISO | NR3C2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myoepithelial tumor | ClinVar | | pseudohypoaldosteronism | | ISO | NR3C2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pseudohypoaldosteronism | ClinVar | | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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