Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | atypical hemolytic-uremic syndrome | | ISO | CD46 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:14566051 more ... | atypical hemolytic-uremic syndrome | | ISO | CD46 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:14566051 more ... | atypical hemolytic-uremic syndrome | | ISO | CD46 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:14566051 more ... | atypical hemolytic-uremic syndrome | | ISO | CD46 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:14566051 more ... | atypical hemolytic-uremic syndrome | | ISO | CD46 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:14566051 more ... | atypical hemolytic-uremic syndrome | | ISO | CD46 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11414356 more ... | atypical hemolytic-uremic syndrome | | ISO | CD46 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10528197 more ... | atypical hemolytic-uremic syndrome | | ISO | CD46 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:14566051 more ... | autistic disorder | | ISO | CD46 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | common variable immunodeficiency 7 | | ISO | CD46 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency more ... | ClinVar | PMID:28492532 | congenital hemolytic anemia | | ISO | CD46 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital hemolytic anemia | ClinVar | PMID:25741868 | gastrointestinal stromal tumor | | ISO | CD46 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar | PMID:28492532 | genetic disease | | ISO | CD46 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28106320 and PMID:28492532 | Hypokalemic Periodic Paralysis, Type 1 | | ISO | CD46 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypokalemic periodic paralysis and type 1 | ClinVar | PMID:28492532 | inflammatory bowel disease | | ISO | CD46 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inflammatory bowel disease | ClinVar | PMID:28492532 | kidney disease | | ISO | CD46 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kidney disease | ClinVar | PMID:25741868 and PMID:28492532 | myofibrillar myopathy 6 | | ISO | CD46 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myofibrillar myopathy 6 | ClinVar | PMID:25741868 and PMID:28492532 | parathyroid carcinoma | | ISO | CD46 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Parathyroid carcinoma | ClinVar | PMID:28492532 | Thrombotic Microangiopathies | | ISO | CD46 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thrombotic microangiopathy | ClinVar | PMID:16199547 more ... | |