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Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | RECQL | Human | Breast Cancer, Familial | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial cancer of breast | ClinVar | PMID:28492532 | RECQL | Human | cancer | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cancer | ClinVar | | RECQL | Human | dilated cardiomyopathy 1O | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1O | ClinVar | PMID:28492532 | RECQL | Human | Dwarfism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short stature | ClinVar | PMID:25741868 and PMID:35025765 | RECQL | Human | epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:25741868 more ... | RECQL | Human | hepatoblastoma | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hepatoblastoma | ClinVar | | RECQL | Human | hereditary breast ovarian cancer syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar | PMID:25741868 more ... | RECQL | Human | hereditary breast ovarian cancer syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar | PMID:25741868 and PMID:32566746 | RECQL | Human | hereditary breast ovarian cancer syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar | PMID:25741868 more ... | RECQL | Human | hereditary breast ovarian cancer syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar | PMID:25741868 more ... | RECQL | Human | hereditary breast ovarian cancer syndrome | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar | PMID:25741868 more ... | RECQL | Human | hereditary breast ovarian cancer syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar | PMID:25741868 more ... | RECQL | Human | hereditary breast ovarian cancer syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Breast-ovarian cancer more ... | ClinVar | PMID:25741868 more ... | RECQL | Human | hereditary breast ovarian cancer syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar | PMID:25741868 more ... | RECQL | Human | hereditary breast ovarian cancer syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar | PMID:25741868 more ... | RECQL | Human | hereditary breast ovarian cancer syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Breast-ovarian cancer more ... | ClinVar | PMID:25741868 more ... | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25741868 more ... | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25741868 more ... | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25741868 more ... | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25741868 and PMID:28492532 | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:26467025 and PMID:28492532 | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:28492532 | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:19768149 more ... | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25741868 more ... | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:26467025 more ... | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:17576681 more ... | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25741868 and PMID:32566746 | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer | ClinVar | PMID:25741868 more ... | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer | ClinVar | PMID:25741868 more ... | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25741868 more ... | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer | ClinVar | PMID:25741868 more ... | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar | PMID:25741868 more ... | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar | PMID:25741868 more ... | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25741868 more ... | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:26467025 and PMID:28492532 | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25741868 more ... | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25741868 more ... | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25915596 more ... | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar | PMID:25945795 more ... | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25915596 more ... | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25741868 more ... | RECQL | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25741868 and PMID:28492532 | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RECON progeroid syndrome | ClinVar | PMID:25741868 more ... | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RECON progeroid syndrome | ClinVar | PMID:25741868 more ... | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RECQL-related condition | ClinVar | PMID:25915596 more ... | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RECQL-related condition | ClinVar | PMID:25741868 more ... | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RECQL-related condition | ClinVar | PMID:25741868 more ... | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RECQL-related condition | ClinVar | PMID:17576681 more ... | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RECON progeroid syndrome | ClinVar | PMID:25741868 more ... | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RECON progeroid syndrome | ClinVar | PMID:25741868 more ... | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RECON progeroid syndrome | ClinVar | PMID:19768149 more ... | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: RECON progeroid syndrome | ClinVar | PMID:25741868 | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RECON progeroid syndrome | ClinVar | PMID:25741868 more ... | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RECQL-related condition | ClinVar | PMID:26467025 and PMID:28492532 | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RECQL-related condition | ClinVar | | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RECON progeroid syndrome | ClinVar | PMID:16199547 more ... | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RECON progeroid syndrome | ClinVar | PMID:25741868 more ... | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RECQL-related condition | ClinVar | PMID:25741868 more ... | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RECQL-related condition | ClinVar | PMID:25741868 more ... | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RECQL-related condition | ClinVar | PMID:25741868 more ... | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RECQL-related condition | ClinVar | PMID:25741868 more ... | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RECQL-related condition | ClinVar | PMID:25741868 more ... | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RECQL-related condition | ClinVar | PMID:25741868 more ... | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RECQL-related condition | ClinVar | PMID:17576681 more ... | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RECON progeroid syndrome | ClinVar | PMID:25741868 and PMID:35025765 | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RECQL-related condition | ClinVar | PMID:25741868 more ... | RECQL | Human | RECON PROGEROID SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RECQL-related condition | ClinVar | PMID:25741868 more ... | |