Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | IAGP | RGD:8555629 | 8554872 | ClinVar Annotator: match by term: Autistic disorder of childhood onset | ClinVar | PMID:10071185 more ... | Bunion | | IAGP | RGD:8555629 | 8554872 | ClinVar Annotator: match by term: Bunion | ClinVar | PMID:10071185 more ... | Cognitive Dysfunction | | IAGP | RGD:8555629 | 8554872 | ClinVar Annotator: match by term: Cognitive impairment | ClinVar | PMID:10071185 more ... | Congenital Macroglossia | | IAGP | RGD:8555629 | 8554872 | ClinVar Annotator: match by term: Congenital macroglossia | ClinVar | PMID:10071185 more ... | developmental and epileptic encephalopathy 42 | | IAGP | RGD:38597961 | 8554872 | ClinVar Annotator: match by term: Epileptic encephalopathy more ... | ClinVar | PMID:25741868 | Developmental Disabilities | | IAGP | RGD:8555629 | 8554872 | ClinVar Annotator: match by term: Developmental delay | ClinVar | PMID:10071185 more ... | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12738505 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:25087612 more ... | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12739353 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:23042115 more ... | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28909355 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28896741 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28896275 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28896496 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28896488 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28881331 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:24648345 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28896491 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:16115930 more ... | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28886462 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:14690550 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:17828463 more ... | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28886808 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28886478 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28881049 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11350848 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:14635116 more ... | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28886472 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28881634 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28881623 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28891585 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28903045 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28896748 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28881046 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28881627 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28886468 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:21071604 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:24923815 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28905500 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28896282 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28896271 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28891872 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28896744 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:24648345 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28903051 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28896278 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8646504 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:16115930 more ... | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28903055 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8646505 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:16115930 more ... | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:14689688 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8555629 | 8554872 | ClinVar Annotator: match by term: Hereditary Thymine-Uraciluria | ClinVar | PMID:10071185 more ... | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12738511 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:25087612, PMID:25741868 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28891579 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28903049 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28891592 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8646501 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:23588312 more ... | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11581245 | 8554872 | ClinVar Annotator: match by term: Hereditary Thymine-Uraciluria | ClinVar | PMID:10071185 more ... | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8646487 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:14693436 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8646527 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8646520 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:25741868, PMID:26467025 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11637130 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:17417073 more ... | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:13809348 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:26467025 more ... | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28905497 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12738648 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:25087612, PMID:25741868 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8646517 | 8554872 | ClinVar Annotator: match by term: Hereditary Thymine-Uraciluria | ClinVar | PMID:16361556 more ... | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28891588 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:28881327 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:14688097 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8646495 | 8554872 | ClinVar Annotator: match by term: Hereditary Thymine-Uraciluria | ClinVar | PMID:10803677 more ... | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8646498 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:10671643 more ... | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8646483 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:11875367 more ... | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8646491 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:25741868 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8646471 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:17000684 more ... | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8646497 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:23042115 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8646490 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:28492532 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:13791665 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:25741868 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12738701 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:25741868 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:13788614 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:19822137 more ... | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:13782638 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:19473056 more ... | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8594982 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:26467025 more ... | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:21404105 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:25741868 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11663891 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:26467025 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8646496 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:25741868, PMID:26467025 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:13790747 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:24648345 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:13785173 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:13789541 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:27727460 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11637152 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:16033824 more ... | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:13790022 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:27727460 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8629739 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8646500 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:25741868 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:13789737 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:13789350 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:13782646 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:13783264 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:13788760 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:24648345 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:13783846 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:24648345 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:13790843 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:21590448 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:13789535 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:27727460 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:13792099 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:11988088, PMID:24648345 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:13783672 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:11988088 more ... | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:13790475 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:19473056 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:13788809 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:13789060 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:13788506 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:13784970 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:18600544 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8646499 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:13792123 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8594983 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:24648345, PMID:9439663 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8646474 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11581988 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:11988088 more ... | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:13521942 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12739791 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12739328 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11657474 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12739958 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12738776 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12740528 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12740346 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12740471 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11650482 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12740417 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11597629 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8555630 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:19296131, PMID:9254861 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11582482 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11578663 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12740481 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12739580 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8646465 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11657111 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11581340 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8646507 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:25741868 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12740166 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12740363 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:10042643 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:12562666 more ... | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12739247 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11658748 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11657933 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8646469 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11656166 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12738560 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11663936 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12739991 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11579254 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11580571 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12739449 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11660527 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11579446 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11578067 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8646467 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11581170 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11579086 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:10042645 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:22353294 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12738657 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11664015 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11661685 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11580400 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12738969 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12740567 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11658899 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12740219 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12738739 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11579607 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8646466 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12740600 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:15899693 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12740515 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11580279 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12738570 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11580186 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:15899693, PMID:25565930 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8555631 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:9254861 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12740320 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12739394 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12739615 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11587625 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11649964 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:38465259 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:25741868 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11583357 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:13473408 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:25741868 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11654603 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12739859 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:25741868 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12739633 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11577620 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12739932 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11578472 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12739338 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | PMID:26804652 | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:12740152 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:11581827 | 8554872 | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar | | dihydropyrimidine dehydrogenase deficiency | | IAGP | RGD:8646473 | 8554872 | ClinVar Annotator: match by term: Pyrimidinemia familial | ClinVar | PMID:11156223 more ... | epilepsy | | IAGP | RGD:8555629 | 8554872 | ClinVar Annotator: match by term: Epilepsy | ClinVar | PMID:10071185 more ... | genetic disease | | IAGP | RGD:8646473 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11156223 more ... | genetic disease | | IAGP | RGD:13530177 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:40886773 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | Hallux Valgus | | IAGP | RGD:8555629 | 8554872 | ClinVar Annotator: match by term: Hallux valgus | ClinVar | PMID:10071185 more ... | head and neck squamous cell carcinoma | | IAGP | RGD:21068000 | 8554872 | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar | | Hirschsprung Disease 1 | | IAGP | RGD:8555629 | 8554872 | ClinVar Annotator: match by term: Hirschsprung disease 1 | ClinVar | PMID:10071185 more ... | Hirschsprung's disease | | IAGP | RGD:8555629 | 8554872 | ClinVar Annotator: match by term: Hirschsprung Disease | ClinVar | PMID:10071185 more ... | intellectual disability | | IAGP | RGD:8555629 | 8554872 | ClinVar Annotator: match by term: Mental-retardation | ClinVar | PMID:10071185 more ... | Macroglossia | | IAGP | RGD:8555629 | 8554872 | ClinVar Annotator: match by term: Macroglossia | ClinVar | PMID:10071185 more ... | Malocclusion, Angle Class III | | IAGP | RGD:8555629 | 8554872 | ClinVar Annotator: match by term: Hapsburg jaw | ClinVar | PMID:10071185 more ... | Prognathism | | IAGP | RGD:8555629 | 8554872 | ClinVar Annotator: match by term: Prognathism | ClinVar | PMID:10071185 more ... | prostate cancer | | IAGP | RGD:9686776 | 8554872 | ClinVar Annotator: match by term: Prostate cancer | ClinVar | PMID:23265383 | visual epilepsy | | IAGP | RGD:8555629 | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:10071185 more ... | |
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Imported Disease Annotations - CTD
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References
References - curated
| 1. | Ajiki T, etal., Anticancer Res. 2006 Mar-Apr;26(2B):1391-6. |
| 2. | Cui Y, etal., Cancer Chemother Pharmacol. 2013 Jan;71(1):145-52. doi: 10.1007/s00280-012-1991-y. Epub 2012 Oct 12. |
| 3. | GOA_HUMAN data from the GO Consortium |
| 4. | KEGG |
| 5. | Kleibl Z, etal., Neoplasma. 2009;56(4):303-16. |
| 6. | Kobuchi S, etal., Eur J Drug Metab Pharmacokinet. 2013 Sep;38(3):171-81. doi: 10.1007/s13318-012-0114-9. Epub 2012 Nov 30. |
| 7. | Kuramochi H, etal., Cancer Chemother Pharmacol. 2008 Dec;63(1):85-9. Epub 2008 Feb 29. |
| 8. | Nakahara O, etal., Int J Clin Oncol. 2010 Feb;15(1):39-45. |
| 9. | Ogata Y, etal., Gan To Kagaku Ryoho. 2001 May;28(5):655-60. |
| 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 import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 14. | RGD automated import pipeline for gene-chemical interactions |
| 15. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
| 16. | Tamaki N, etal., Br J Nutr. 1995 May;73(5):711-22. |
| 17. | Tateishi T, etal., Drug Metab Dispos. 1999 Jun;27(6):651-4. |
| 18. | Tatsumi K, etal., J Biochem. 1993 Dec;114(6):912-8. |
| 19. | Teh LK, etal., Ther Drug Monit. 2013 Oct;35(5):624-30. doi: 10.1097/FTD.0b013e318290acd2. |
| 20. | van Kuilenburg AB, etal., Clin Cancer Res. 2000 Dec;6(12):4705-12. |
| 21. | Van Kuilenburg AB, etal., Int J Cancer. 2002 Sep 20;101(3):253-8. |
| 22. | Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363. |
| 23. | Zhao XQ, etal., Tumour Biol. 2016 Feb 4. |
Additional References at PubMed
| PMID:1512248 | PMID:1544906 | PMID:1901022 | PMID:2319593 | PMID:2528450 | PMID:3335642 | PMID:7713523 | PMID:8083224 | PMID:8221682 | PMID:8892022 | PMID:9135003 | PMID:9170156 |
| PMID:9266349 | PMID:9348115 | PMID:9439663 | PMID:9464498 | PMID:10410956 | PMID:10606257 | PMID:10923099 | PMID:11072080 | PMID:11267945 | PMID:11555601 | PMID:11862480 | PMID:11895907 |
| PMID:11988088 | PMID:11992400 | PMID:12025228 | PMID:12047484 | PMID:12360106 | PMID:12477932 | PMID:12576451 | PMID:12822071 | PMID:12844478 | PMID:12851836 | PMID:14519634 | PMID:14562021 |
| PMID:14654904 | PMID:14702180 | PMID:15017333 | PMID:15025795 | PMID:15069545 | PMID:15102667 | PMID:15132136 | PMID:15254700 | PMID:15316940 | PMID:15709212 | PMID:15939134 | PMID:15993511 |
| PMID:15999119 | PMID:16021908 | PMID:16132996 | PMID:16328315 | PMID:16344560 | PMID:16361556 | PMID:16771603 | PMID:16786143 | PMID:16806531 | PMID:16820886 | PMID:16969493 | PMID:17000685 |
| PMID:17046731 | PMID:17121937 | PMID:17165084 | PMID:17203168 | PMID:17335544 | PMID:17375478 | PMID:17377791 | PMID:17397246 | PMID:17417073 | PMID:17445431 | PMID:17582309 | PMID:17582310 |
| PMID:17612628 | PMID:17699798 | PMID:17828463 | PMID:17848752 | PMID:17876700 | PMID:17905396 | PMID:18004243 | PMID:18075467 | PMID:18225548 | PMID:18299612 | PMID:18347391 | PMID:18443386 |
| PMID:18452418 | PMID:18537153 | PMID:18619742 | PMID:18705276 | PMID:18937829 | PMID:19020767 | PMID:19104657 | PMID:19154585 | PMID:19178088 | PMID:19288105 | PMID:19295264 | PMID:19296131 |
| PMID:19343046 | PMID:19530960 | PMID:19546880 | PMID:19571608 | PMID:19636001 | PMID:19724871 | PMID:19795123 | PMID:19822137 | PMID:19858398 | PMID:19898482 | PMID:19956635 | PMID:20037211 |
| PMID:20157331 | PMID:20379614 | PMID:20385995 | PMID:20407238 | PMID:20453000 | PMID:20507294 | PMID:20530282 | PMID:20544545 | PMID:20570913 | PMID:20647221 | PMID:20647710 | PMID:20653680 |
| PMID:20665215 | PMID:20714149 | PMID:20714877 | PMID:20803296 | PMID:20809970 | PMID:20819423 | PMID:20837458 | PMID:21057378 | PMID:21111509 | PMID:21114665 | PMID:21498394 | PMID:21507922 |
| PMID:21612699 | PMID:21822266 | PMID:21873635 | PMID:21919605 | PMID:21965773 | PMID:22003227 | PMID:22006578 | PMID:22143355 | PMID:22199347 | PMID:22270332 | PMID:22306127 | PMID:22339448 |
| PMID:22490566 | PMID:22510597 | PMID:22593457 | PMID:22641663 | PMID:22688191 | PMID:22939629 | PMID:23313143 | PMID:23401991 | PMID:23453885 | PMID:23588312 | PMID:23597150 | PMID:23603345 |
| PMID:23736036 | PMID:23781135 | PMID:23930673 | PMID:23960437 | PMID:23974872 | PMID:24104963 | PMID:24401318 | PMID:24405586 | PMID:24455740 | PMID:24590654 | PMID:24647007 | PMID:24648345 |
| PMID:24722188 | PMID:24800948 | PMID:24817302 | PMID:24923815 | PMID:25056061 | PMID:25066213 | PMID:25112781 | PMID:25231870 | PMID:25410891 | PMID:25416956 | PMID:25677447 | PMID:25782327 |
| PMID:25873402 | PMID:25906447 | PMID:26167880 | PMID:26216193 | PMID:26265035 | PMID:26265346 | PMID:26281864 | PMID:26344197 | PMID:26372896 | PMID:26603945 | PMID:26609109 | PMID:26658227 |
| PMID:26804235 | PMID:26804652 | PMID:27072236 | PMID:27127154 | PMID:27181275 | PMID:27248859 | PMID:27268079 | PMID:27281624 | PMID:27399164 | PMID:27461651 | PMID:27727460 | PMID:27741011 |
| PMID:28024938 | PMID:28027897 | PMID:28255193 | PMID:28476815 | PMID:28481884 | PMID:28603180 | PMID:28614820 | PMID:28637434 | PMID:28929491 | PMID:29065426 | PMID:29134491 | PMID:29358721 |
| PMID:29372689 | PMID:29507755 | PMID:29515256 | PMID:29691939 | PMID:29906295 | PMID:30114658 | PMID:30226808 | PMID:30746637 | PMID:30803213 | PMID:31160238 | PMID:31653159 |
Genomics
