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Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | RPS19 | Human | agammaglobulinemia 3 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Agammaglobulinemia 3 and autosomal recessive | ClinVar | PMID:28492532 | RPS19 | Human | Carpenter Syndrome 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Carpenter syndrome 2 | ClinVar | PMID:28492532 | RPS19 | Human | congenital hypoplastic anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital hypoplastic anemia | ClinVar | PMID:10753603 more ... | RPS19 | Human | congenital hypoplastic anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital hypoplastic anemia | ClinVar | PMID:10590074 more ... | RPS19 | Human | congenital hypoplastic anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital hypoplastic anemia | ClinVar | PMID:10753603 more ... | RPS19 | Human | congenital hypoplastic anemia | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital hypoplastic anemia | ClinVar | PMID:28492532 | RPS19 | Human | congenital hypoplastic anemia | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital hypoplastic anemia | ClinVar | PMID:25741868 and PMID:28492532 | RPS19 | Human | craniosynostosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: TWIST1-related craniosynostosis | ClinVar | PMID:28492532 | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:17576681 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:17576681 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:12586610 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:24033266 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:18768533 and PMID:28492532 | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:20960466 and PMID:28492532 | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:10590074 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:12750732 and PMID:28492532 | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:20960466 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:17576681 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:24675553 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:16199547 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:25381059 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:16199547 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:25946618 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:15384984 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:17576681 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:10590074 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:25042156 | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:15384984 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:18768533 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:10598818 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:11112378 | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:10590074 and PMID:26604301 | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:11112378 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:11112378 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:12750732 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aase syndrome | ClinVar | PMID:10590074 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:15384984 and PMID:18217898 | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:18768533 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:20960466 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:10590074 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:10590074 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:11112378 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:15523650 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:11112378 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:10590074 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:12586610 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:16159874 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AREGENERATIVE ANEMIA and CHRONIC CONGENITAL | ClinVar | PMID:10753603 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:25946618 and PMID:28492532 | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:25741868 | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:25741868 and PMID:29766597 | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:15059149 more ... | RPS19 | Human | Diamond-Blackfan anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Red cell aplasia and pure hereditary | ClinVar | PMID:10753603 more ... | RPS19 | Human | Diamond-Blackfan anemia 1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 | ClinVar | PMID:25741868 | RPS19 | Human | Diamond-Blackfan anemia 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 | ClinVar | PMID:17576681 more ... | RPS19 | Human | Diamond-Blackfan anemia 1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 | ClinVar | PMID:25741868 and PMID:28492532 | RPS19 | Human | Diamond-Blackfan anemia 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 | ClinVar | PMID:12586610 more ... | RPS19 | Human | Diamond-Blackfan anemia 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 | ClinVar | PMID:25741868 and PMID:29766597 | RPS19 | Human | Diamond-Blackfan anemia 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 | ClinVar | PMID:24033266 more ... | RPS19 | Human | Diamond-Blackfan anemia 1 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 | ClinVar | PMID:10598818 | RPS19 | Human | Diamond-Blackfan anemia 1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 | ClinVar | | RPS19 | Human | Diamond-Blackfan anemia 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 | ClinVar | PMID:10753603 more ... | RPS19 | Human | Diamond-Blackfan anemia 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 | ClinVar | PMID:25741868 more ... | RPS19 | Human | Diamond-Blackfan anemia 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 | ClinVar | PMID:15384984 more ... | RPS19 | Human | Diamond-Blackfan anemia 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 | ClinVar | PMID:10590074 more ... | RPS19 | Human | Diamond-Blackfan anemia 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 | ClinVar | PMID:25741868 and PMID:9988267 | RPS19 | Human | Diamond-Blackfan anemia 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 | ClinVar | PMID:18768533 more ... | RPS19 | Human | Diamond-Blackfan anemia 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 | ClinVar | PMID:10598818 more ... | RPS19 | Human | Diamond-Blackfan anemia 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 | ClinVar | PMID:23812780 | RPS19 | Human | Diamond-Blackfan anemia 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 | ClinVar | PMID:11112378 more ... | RPS19 | Human | hepatoblastoma | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hepatoblastoma | ClinVar | PMID:12586610 more ... | RPS19 | Human | maple syrup urine disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar | PMID:28492532 | RPS19 | Human | schizophrenia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | PMID:21681106 and PMID:30208311 | |