Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal dominant familial periodic fever | | ISO | SCNN1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) | ClinVar | PMID:25741868 | autosomal recessive pseudohypoaldosteronism type 1 | | ISO | SCNN1A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10403853 more ... | bronchiectasis 1 | | ISO | SCNN1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar | PMID:25741868 | bronchiectasis 2 | | ISO | SCNN1A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10403853 more ... | Chediak-Higashi syndrome | | ISO | SCNN1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar | PMID:25741868 | Failure to Thrive | | ISO | SCNN1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Failure to thrive | ClinVar | PMID:25741868 and PMID:28492532 | familial Mediterranean fever | | ISO | SCNN1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial Periodic Fever | ClinVar | PMID:25741868 | genetic disease | | ISO | SCNN1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:24033266 more ... | Hyperphosphatemic Familial Tumoral Calcinosis 1 | | ISO | SCNN1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:25378588 and PMID:29389098 | Liddle Syndrome 3 | | ISO | SCNN1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Liddle syndrome 3 | ClinVar | PMID:10523338 more ... | lymphoproliferative syndrome 2 | | ISO | SCNN1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 | ClinVar | PMID:28492532 | peroxisome biogenesis disorder 2B | | ISO | SCNN1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B | ClinVar | PMID:28492532 | prostate cancer | | ISO | SCNN1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar | PMID:23265383 | pseudohypoaldosteronism | | ISO | SCNN1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pseudohypoaldosteronism | ClinVar | PMID:25741868 | Pseudohypoaldosteronism Type IB1, Autosomal Recessive | | ISO | SCNN1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: PSEUDOHYPOALDOSTERONISM more ... | ClinVar | PMID:24033266 more ... | Temtamy syndrome | | ISO | SCNN1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Temtamy syndrome | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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