Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | anemia | | ISO | SPTA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anemia | ClinVar | PMID:25741868 more ... | autoimmune interstitial lung, joint, and kidney disease | | ISO | SPTA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome | ClinVar | PMID:28492532 | congenital hemolytic anemia | | ISO | SPTA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital hemolytic anemia | ClinVar | PMID:25741868 more ... | Elliptocytosis 2 | | ISO | SPTA1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:1191563 more ... | gastrointestinal stromal tumor | | ISO | SPTA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar | PMID:28492532 | genetic disease | | ISO | SPTA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | hemolytic anemia | | ISO | SPTA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hemolytic anemia | ClinVar | PMID:25741868 more ... | hereditary elliptocytosis | | ISO | SPTA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Elliptocytosis | ClinVar | PMID:25741868 and PMID:28492532 | Hereditary Pyropoikilocytosis | | ISO | SPTA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pyropoikilocytosis and hereditary | ClinVar | PMID:1191563 more ... | hereditary spherocytosis | | ISO | SPTA1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15384986 more ... | hereditary spherocytosis | | ISO | SPTA1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15384986 more ... | hereditary spherocytosis type 3 | | ISO | SPTA1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15071791 more ... | parathyroid carcinoma | | ISO | SPTA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Parathyroid carcinoma | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
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