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Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CD163 | Human | developmental and epileptic encephalopathy 21 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 | ClinVar | PMID:18712838|PMID:21031596|PMID:24399846|PMID:28492532|PMID:30626896 | CD163 | Human | developmental and epileptic encephalopathy 21 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 | ClinVar | PMID:28492532 | CD163 | Human | Hyperphosphatemic Familial Tumoral Calcinosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 | ClinVar | PMID:25378588|PMID:29389098 | CD163 | Human | Klippel-Feil syndrome 3 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant | ClinVar | PMID:28492532 | CD163 | Human | lung adenocarcinoma | | IAGP | RGD:243053385|RGD:243053721 | 8554872 | ClinVar Annotator: match by term: Lung adenocarcinoma | ClinVar | PMID:27993330 | CD163 | Human | lymphoproliferative syndrome 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 | ClinVar | PMID:28492532 | CD163 | Human | multisystem inflammatory syndrome in children | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children | ClinVar | | CD163 | Human | peroxisome biogenesis disorder 2B | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B | ClinVar | PMID:18712838|PMID:21031596|PMID:24399846|PMID:28492532|PMID:30626896 | CD163 | Human | peroxisome biogenesis disorder 2B | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B | ClinVar | PMID:28492532 | CD163 | Human | squamous cell carcinoma | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Squamous cell carcinoma | ClinVar | PMID:27993330 | CD163 | Human | Temtamy syndrome | | IAGP | RGD:126727024|RGD:151759077|RGD:26888978 | 8554872 | ClinVar Annotator: match by term: Temtamy syndrome | ClinVar | PMID:28492532 | |