Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | B-lymphoblastic leukemia/lymphoma with hypodiploidy | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy | ClinVar | PMID:25741868, PMID:28492532 | Carney Triad | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA more ... | ClinVar | | Carney Triad | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA more ... | ClinVar | PMID:20484225 more ... | dilated cardiomyopathy 1GG | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1GG | ClinVar | PMID:25741868 | dilated cardiomyopathy 1GG | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1GG | ClinVar | PMID:25741868, PMID:28492532 | dilated cardiomyopathy 1GG | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1GG | ClinVar | PMID:12794685 more ... | dilated cardiomyopathy 1GG | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1GG | ClinVar | PMID:20484225 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by null | ClinVar | | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25741868 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:17576681 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25741868 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:17576681 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:17576681 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25720320 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:11423010 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25741868 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25595276 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:17298551, PMID:28492532 | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:21822798 | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:19628817 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:28492532, PMID:28878254 | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25412673 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:10746566 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:11423010 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25394176 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:23060355, PMID:28492532 | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:24448499 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:10746566 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:23109135 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:28492532, PMID:30877234 | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:28384794, PMID:28492532 | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:23109135, PMID:28492532 | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:23666964 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:23666964 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:23797725 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:15989954 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary | ClinVar | PMID:28492532, PMID:28724664 | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:27535533, PMID:28492532 | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:23282968 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:22974104 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:27153395, PMID:28492532 | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:28492532, PMID:28546994 | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:17376234 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:21505157 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:16199547 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:22955521 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:22974104 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:28384794 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:16199547 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:22955521 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:22974104 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:28492532 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:22974104 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:20484225 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:22972948 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:16199547 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:16199547 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:23666964, PMID:28492532 | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:21752896 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:23282968 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:16199547 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:22974104 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:24694336 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:24033266 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:22955521 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:17376234 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary | ClinVar | PMID:25741868 | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:23666964 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25741868, PMID:28492532 | Hereditary Neoplastic Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:28492532 | Hereditary Paraganglioma-Pheochromocytoma Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes | ClinVar | PMID:24033266 more ... | Hereditary Paraganglioma-Pheochromocytoma Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes | ClinVar | PMID:17298551, PMID:28492532 | Hereditary Paraganglioma-Pheochromocytoma Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes | ClinVar | PMID:25741868, PMID:28492532 | Hereditary Paraganglioma-Pheochromocytoma Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes | ClinVar | PMID:17376234 more ... | Hereditary Paraganglioma-Pheochromocytoma Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes | ClinVar | PMID:11423010 more ... | Hereditary Paraganglioma-Pheochromocytoma Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes | ClinVar | PMID:28492532, PMID:28546994 | Hereditary Paraganglioma-Pheochromocytoma Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes | ClinVar | PMID:28492532, PMID:28724664 | Hereditary Paraganglioma-Pheochromocytoma Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes | ClinVar | PMID:25741868 more ... | Hereditary Paraganglioma-Pheochromocytoma Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes | ClinVar | PMID:28384794, PMID:28492532 | Hereditary Paraganglioma-Pheochromocytoma Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes | ClinVar | PMID:23666964, PMID:28492532 | Hereditary Paraganglioma-Pheochromocytoma Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes | ClinVar | PMID:23666964 more ... | Hereditary Paraganglioma-Pheochromocytoma Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes | ClinVar | PMID:28492532 more ... | Hereditary Paraganglioma-Pheochromocytoma Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes | ClinVar | | Hereditary Paraganglioma-Pheochromocytoma Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes | ClinVar | PMID:28492532 | Hereditary Paraganglioma-Pheochromocytoma Syndromes | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes | ClinVar | PMID:25741868 | hereditary renal cell carcinoma | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Hereditary renal cell carcinoma | ClinVar | PMID:28492532, PMID:28546994 | idiopathic pulmonary fibrosis | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form | ClinVar | PMID:12629597, PMID:28492532 | idiopathic pulmonary fibrosis | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form | ClinVar | PMID:28492532 | Leigh disease | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:25741868 more ... | Leigh disease | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:25741868 more ... | Leigh disease | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:25741868 more ... | Leigh disease | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:11423010 more ... | Leigh disease | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:11423010 more ... | Leigh disease | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:17298551, PMID:28492532 | Leigh disease | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:28492532 more ... | Leigh disease | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:28384794, PMID:28492532 | Leigh disease | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:28492532, PMID:28724664 | Leigh disease | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:23666964 more ... | Leigh disease | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:23666964, PMID:28492532 | Leigh disease | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:24448499 more ... | Leigh disease | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:28492532, PMID:28546994 | Leigh disease | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:17376234 more ... | Leigh disease | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy | ClinVar | PMID:20484225 more ... | Leigh disease | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:21752896 more ... | Leigh disease | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:24033266 more ... | Leigh disease | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:25741868 | Leigh disease | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:17376234 more ... | Leigh disease | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:25741868, PMID:28492532 | Leigh disease | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:28492532 | mitochondrial complex II deficiency | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency | ClinVar | PMID:25741868, PMID:28492532 | mitochondrial complex II deficiency | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Succinate CoQ reductase deficiency | ClinVar | PMID:22974104 more ... | mitochondrial complex II deficiency | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency | ClinVar | PMID:22974104 more ... | mitochondrial complex II deficiency | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Succinate CoQ reductase deficiency | ClinVar | PMID:20484225 more ... | mitochondrial complex II deficiency | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency | ClinVar | PMID:10746566 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:17576681 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 | ClinVar | PMID:10746566 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 | ClinVar | PMID:25741868, PMID:28492532 | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:28492532, PMID:28546994 | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:25741868 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:23666964 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:23666964 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 | ClinVar | PMID:22974104 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 | ClinVar | PMID:22974104 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:10746566 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:26700204 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:17298551, PMID:28492532 | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:19628817 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:15989954 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:24448499 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:22974104 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:16199547 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:17376234 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:22974104 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:22972948 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:28492532 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:28492532, PMID:30877234 | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:22972948, PMID:28492532 | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:16199547 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 | ClinVar | PMID:20484225 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:16361598 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:16199547 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:27153395, PMID:28492532 | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:22955521 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:23282968, PMID:28492532 | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:10746566 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:21752896 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:27535533, PMID:28492532 | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:22974104 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:23109135 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:26700204, PMID:28492532 | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:23666964, PMID:28492532 | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:25394176 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:10746566 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:21505157 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:25412673 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:20484225 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:25720320 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:24694336 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:23282968 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:10746566 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:17576681 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:17376234 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:11423010 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:22955521 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:16199547 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:10746566 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:17576681 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:24033266 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:23666964 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:12794685 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:10746566, PMID:28492532 | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:11423010 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:22974104 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:15989954 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:22955521 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:23109135, PMID:28492532 | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:10976639 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:25741868 | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:28492532, PMID:29177515 | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:25595276 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:25741868 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:22974104 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:28492532, PMID:28878254 | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:16199547 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:22517557 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:23797725 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:16199547 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:25741868 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:23612575 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:28384794 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:23282968 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:25741868 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:28384794 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:16199547 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:28492532, PMID:28750076 | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:28492532, PMID:28724664 | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:25394176 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:23060355, PMID:28492532 | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:22974104 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:20484225 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:28384794, PMID:28492532 | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:16199547 more ... | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:28492532, PMID:30201732 | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | PMID:28492532 | Mitochondrial Complex II Deficiency Nuclear Type 1 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 | ClinVar | | myopathy | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Skeletal myopathy | ClinVar | PMID:28384794, PMID:28492532 | Neurodegeneration with Ataxia and Late-Onset Optic Atrophy | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY | ClinVar | PMID:10976639 more ... | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:17576681 more ... | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:10746566 more ... | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:25720320 more ... | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:11423010 more ... | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:23109135 more ... | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:24448499 more ... | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:10746566 more ... | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:19628817 more ... | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:28384794, PMID:28492532 | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:28492532, PMID:28750076 | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:23666964, PMID:28492532 | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:25741868 | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:10746566 more ... | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:28492532, PMID:28546994 | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:22974104 more ... | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:22974104 more ... | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:22955521 more ... | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:22974104 more ... | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:20484225 more ... | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:10746566 more ... | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:21752896 more ... | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:22955521 more ... | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:17376234 more ... | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:25741868 more ... | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:25741868, PMID:28492532 | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:25741868 more ... | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:23666964 more ... | Paragangliomas 5 | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Paragangliomas 5 | ClinVar | PMID:28492532 | pheochromocytoma | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Pheochromocytoma | ClinVar | | pheochromocytoma | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Pheochromocytoma | ClinVar | PMID:16199547 more ... | pilocytic astrocytoma | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic | ClinVar | PMID:20484225 more ... | rhabdomyosarcoma | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Rhabdomyosarcoma | ClinVar | PMID:20484225 more ... | rhabdomyosarcoma | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Rhabdomyosarcoma | ClinVar | PMID:10746566 more ... | Subacute Necrotizing Encephalopathy of Leigh, Infantile | | ISO | RGD:733521 | 8554872 | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar | PMID:20484225 more ... | |
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Imported Disease Annotations - CTD
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Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
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References
References - curated
| 1. | Bourgeron T, etal., Nat Genet 1995 Oct;11(2):144-9. |
| 2. | Briere JJ, etal., Cell Mol Life Sci. 2005 Oct;62(19-20):2317-24. |
| 3. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 4. | GOA data from the GO Consortium |
| 5. | Grünewald A, etal., Ann Neurol. 2016 Mar;79(3):366-78. doi: 10.1002/ana.24571. Epub 2016 Jan 28. |
| 6. | KEGG |
| 7. | Lashin OM, etal., Free Radic Biol Med. 2006 Mar 1;40(5):886-96. Epub 2005 Nov 2. |
| 8. | MGD data from the GO Consortium |
| 9. | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 10. | OMIM Disease Annotation Pipeline |
| 11. | Pipeline to import KEGG annotations from KEGG into RGD |
| 12. | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 13. | RGD automated data pipeline |
| 14. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 15. | RGD automated import pipeline for gene-chemical interactions |
| 16. | RGD comprehensive gene curation |
| 17. | RGD, Sept. 2003 |
| 18. | Wallwiener M, etal., Arch Gynecol Obstet. 2012 Sep;286(3):683-6. doi: 10.1007/s00404-012-2364-9. Epub 2012 May 9. |
Additional References at PubMed
| PMID:12865426 | PMID:14651853 | PMID:15989954 | PMID:16120479 | PMID:16361598 | PMID:16751257 | PMID:16826196 | PMID:17480203 | PMID:17634366 | PMID:18252725 | PMID:18614015 | PMID:19723079 |
| PMID:19808025 | PMID:19837698 | PMID:21700703 | PMID:23602810 | PMID:24781757 | PMID:25483313 | PMID:26316108 | PMID:31904090 |
Genomics
