Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | ISO | CLCN5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | Bethlem Myopathy 1A | | ISO | CLCN5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar | PMID:14673707 more ... | congenital disorder of glycosylation type IIm | | ISO | CLCN5 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | Dent disease | | ISO | CLCN5 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11136179 more ... | Dent Disease 1 | | ISO | CLCN5 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10469281 more ... | genetic disease | | ISO | CLCN5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10906159 more ... | Hyperkalemia | | ISO | CLCN5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyperkalemia | ClinVar | PMID:25741868 | immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | | ISO | CLCN5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome | ClinVar | PMID:11137992 more ... | low molecular weight proteinuria with hypercalciuric nephrocalcinosis | | ISO | CLCN5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Proteinuria more ... | ClinVar | PMID:11136179 more ... | nephrotic syndrome | | ISO | CLCN5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nephrotic syndrome | ClinVar | PMID:15086899 more ... | neurodegeneration with brain iron accumulation 5 | | ISO | CLCN5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar | PMID:28492532 | Stocco Dos Santos type X-linked intellectual disability | | ISO | CLCN5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: X-linked intellectual disability and Stocco dos Santos type | ClinVar | PMID:25670966 | syndromic X-linked intellectual disability Lubs type | | ISO | CLCN5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:25741868 | X-linked epilepsy with variable learning disabilities and behavior disorders | | ISO | CLCN5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome | ClinVar | PMID:28492532 | X-linked nephrolithiasis type I | | ISO | CLCN5 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11136179 more ... | X-linked recessive hypophosphatemic rickets | | ISO | CLCN5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypophosphatemic rickets and X-linked recessive | ClinVar | PMID:11136179 more ... | X-linked severe congenital neutropenia | | ISO | CLCN5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: X-linked severe congenital neutropenia | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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