Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive pseudohypoaldosteronism type 1 | | ISO | SCNN1G (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10391210 more ... | autosomal recessive pseudohypoaldosteronism type 1 | | ISO | SCNN1G (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10391210 more ... | bronchiectasis 3 | | ISO | SCNN1G (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 3 | ClinVar | PMID:10391210 more ... | congenital disorder of glycosylation type IIe | | ISO | SCNN1G (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation | ClinVar | PMID:28492532 | genetic disease | | ISO | SCNN1G (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | Liddle Syndrome 1 | | ISO | SCNN1G (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Liddle syndrome 1 | ClinVar | | Liddle Syndrome 2 | | ISO | SCNN1G (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Liddle syndrome 2 | ClinVar | PMID:10391210 more ... | myoepithelioma | | ISO | SCNN1G (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myoepithelial tumor | ClinVar | | Pseudohypoaldosteronism Type IB1, Autosomal Recessive | | ISO | SCNN1G (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: PSEUDOHYPOALDOSTERONISM more ... | ClinVar | PMID:10391210 more ... | PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE | | ISO | SCNN1G (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pseudohypoaldosteronism more ... | ClinVar | PMID:11231969 and PMID:8640238 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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