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Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | SORL1 | Human | Alzheimer's disease 9 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alzheimer disease 9 | ClinVar | PMID:28789839 | SORL1 | Human | CD3epsilon deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: CD3epsilon deficiency | ClinVar | PMID:28492532 | SORL1 | Human | chromosome 11 partial duplication syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Distal trisomy 11q | ClinVar | PMID:25741868 | SORL1 | Human | Dwarfism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short stature | ClinVar | PMID:32581362 | SORL1 | Human | hereditary spastic paraplegia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Complex hereditary spastic paraplegia | ClinVar | PMID:25741868 | SORL1 | Human | immunodeficiency 17 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 17 and CD3 gamma deficient | ClinVar | PMID:28492532 | SORL1 | Human | immunodeficiency 18 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 18 | ClinVar | PMID:28492532 | SORL1 | Human | immunodeficiency 19 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 19 | ClinVar | PMID:28492532 | SORL1 | Human | inflammatory bowel disease 28 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inflammatory bowel disease 28 | ClinVar | PMID:28492532 | SORL1 | Human | isolated microphthalmia 5 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar | PMID:28492532 | SORL1 | Human | RASopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RASopathy | ClinVar | PMID:28492532 | SORL1 | Human | schizophrenia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | PMID:21681106 and PMID:30208311 | |