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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | acute myeloid leukemia | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | acute myeloid leukemia | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | acute myeloid leukemia | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar | PMID:11150980 more ... | acute myeloid leukemia | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar | PMID:11150980 more ... | acute myeloid leukemia | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar | PMID:11150980 more ... | adenoid cystic carcinoma | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Adenocystic carcinoma | ClinVar | PMID:11150980 more ... | B-Cell Chronic Lymphocytic Leukemia | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Leukemia more ... | ClinVar | PMID:12835555 more ... | bladder carcinoma | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Urinary bladder carcinoma | ClinVar | PMID:16170316 more ... | Breast Neoplasms | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | Chanarin-Dorfman syndrome | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar | PMID:28492532 | chronic lymphocytic leukemia | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Chronic lymphatic leukemia | ClinVar | PMID:12835555 more ... | Colorectal Neoplasms | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Colorectal Neoplasms | ClinVar | PMID:11150980 more ... | Congenital Myopathy with Excess of Muscle Spindles | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Myopathy more ... | ClinVar | PMID:11150980 more ... | Costello syndrome | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:10716188 more ... | delta beta-thalassemia | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta | ClinVar | PMID:2798417 | developmental and epileptic encephalopathy | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar | PMID:28492532 | disease of cellular proliferation | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:16329078 more ... | early infantile epileptic encephalopathy | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar | PMID:28492532 | epidermal nevus | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | epidermal nevus | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | esophageal carcinoma | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | esophageal carcinoma | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Esophageal carcinoma | ClinVar | PMID:11150980 more ... | Follicular Thyroid Cancer | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:12727991 more ... | gastric adenocarcinoma | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | gastric adenocarcinoma | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | gastric adenocarcinoma | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | gastric adenocarcinoma | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | genetic disease | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11150980 more ... | glioblastoma | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Glioblastoma | ClinVar | PMID:11150980 more ... | head and neck squamous cell carcinoma | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | head and neck squamous cell carcinoma | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | head and neck squamous cell carcinoma | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | head and neck squamous cell carcinoma | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | hepatocellular carcinoma | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar | PMID:11150980 more ... | hepatocellular carcinoma | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:17576681 more ... | Hydrops Fetalis | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Fetal edema | ClinVar | PMID:12835555 more ... | Hypophosphatemic Rickets | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Hypophosphatemic rickets | ClinVar | PMID:25741868, PMID:35738466 | immunodeficiency 39 | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 39 | ClinVar | PMID:28492532 | intellectual disability | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868, PMID:28492532 | large congenital melanocytic nevus | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:16170316 more ... | linear nevus sebaceous syndrome | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:12835555 more ... | lung adenocarcinoma | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | lung adenocarcinoma | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | lung adenocarcinoma | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | lung adenocarcinoma | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar | PMID:11150980 more ... | lung adenocarcinoma | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | lung non-small cell carcinoma | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Non-small cell lung carcinoma | ClinVar | PMID:10716188 more ... | lung squamous cell carcinoma | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:12835555 more ... | melanoma | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | multiple myeloma | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Myelomatosis | ClinVar | PMID:11150980 more ... | multiple myeloma | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | multiple myeloma | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Myelomatosis | ClinVar | PMID:11150980 more ... | myelodysplastic syndrome | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Myelodysplastic syndromes | ClinVar | PMID:11150980 more ... | Nasopharyngeal Neoplasms | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Nasopharyngeal Neoplasms | ClinVar | PMID:11150980 more ... | neuronal ceroid lipofuscinosis | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis | ClinVar | PMID:28492532 | Noonan syndrome | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:16329078 more ... | Noonan syndrome 3 | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Noonan syndrome 3 | ClinVar | PMID:12727991 more ... | ovarian cancer | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Ovarian cancer | ClinVar | PMID:25741868, PMID:28492532 | ovarian serous cystadenocarcinoma | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma | ClinVar | PMID:11150980 more ... | pancreatic adenocarcinoma | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Pancreatic adenocarcinoma | ClinVar | PMID:11150980 more ... | papillary renal cell carcinoma | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar | PMID:11150980 more ... | papillary renal cell carcinoma | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar | PMID:11150980 more ... | papillary renal cell carcinoma | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | Paraproteinemias | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Plasma cell dyscrasia | ClinVar | PMID:11150980 more ... | parathyroid adenoma | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Parathyroid adenoma | ClinVar | PMID:25741868, PMID:35738466 | Pigmented Nevus | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: PIGMENTED MOLES | ClinVar | PMID:16170316 more ... | plasma cell neoplasm | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Plasma cell dyscrasia | ClinVar | PMID:11150980 more ... | prostate adenocarcinoma | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | prostate adenocarcinoma | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar | PMID:11150980 more ... | prostate adenocarcinoma | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar | PMID:11150980 more ... | Prostate Cancer, Hereditary, 1 | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Prostate cancer more ... | ClinVar | | pulmonary valve stenosis | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Pulmonic stenosis | ClinVar | PMID:28492532 | RASopathy | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | rhabdomyosarcoma | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Rhabdomyosarcoma | ClinVar | PMID:11150980 more ... | Salivary Gland Neoplasms | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Salivary gland neoplasm | ClinVar | PMID:17384584 more ... | Sebaceous Nevus Syndrome and Hemimegalencephaly | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly | ClinVar | PMID:12835555 more ... | skin melanoma | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | skin melanoma | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | spermatocytoma | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Spermatocytic seminoma | ClinVar | PMID:12727991 more ... | Sporadic Papillary Renal Cell Carcinoma | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar | PMID:11150980 more ... | thymoma | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Thymoma | ClinVar | PMID:20859122 more ... | Thyroid Neoplasms | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Neoplasm of the thyroid gland | ClinVar | PMID:11150980 more ... | transitional cell carcinoma | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder | ClinVar | PMID:11150980 more ... | urinary bladder cancer | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:16170316 more ... | Urinary Bladder Neoplasm | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Urinary Bladder Neoplasms | ClinVar | PMID:16170316 more ... | uterine cancer | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Malignant neoplasm of body of uterus | ClinVar | PMID:11150980 more ... | uterine carcinosarcoma | | ISO | RGD:730881 | 8554872 | ClinVar Annotator: match by term: Uterine carcinosarcoma | ClinVar | PMID:11150980 more ... | Uterine Cervical Neoplasms | | ISO | RGD:730881 | 8554872 | ClinVar more ... | ClinVar | PMID:11150980 more ... | |