Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CD3epsilon deficiency | | ISO | BACE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: CD3epsilon deficiency | ClinVar | PMID:28492532 | Chromosome 11, Partial Trisomy 11q | | ISO | BACE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Distal trisomy 11q | ClinVar | PMID:25741868 | Dwarfism | | ISO | BACE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short stature | ClinVar | PMID:32581362 | genetic disease | | ISO | BACE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | immunodeficiency 17 | | ISO | BACE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 17 and CD3 gamma deficient | ClinVar | PMID:28492532 | immunodeficiency 18 | | ISO | BACE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 18 | ClinVar | PMID:28492532 | immunodeficiency 19 | | ISO | BACE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 19 | ClinVar | PMID:28492532 | inflammatory bowel disease 28 | | ISO | BACE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inflammatory bowel disease 28 | ClinVar | PMID:28492532 | intellectual disability | | ISO | BACE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | isolated microphthalmia 5 | | ISO | BACE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar | PMID:28492532 | nephronophthisis 15 | | ISO | BACE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nephronophthisis 15 | ClinVar | PMID:22863007 more ... | RASopathy | | ISO | BACE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RASopathy | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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