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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | aortic dissection | | ISO | RGD:8557581 | 9068941 | ClinVar Annotator: match by term: Aortic dissection | ClinVar | PMID:10782930 more ... | carotid artery dissection | | ISO | RGD:8557581 | 9068941 | ClinVar Annotator: match by term: Carotid artery dissection | ClinVar | PMID:10782930 more ... | Carotid Artery Dissection, Internal | | ISO | RGD:8557581 | 9068941 | ClinVar Annotator: match by term: Internal carotid artery dissection | ClinVar | PMID:10782930 more ... | carotid artery occlusion | | ISO | RGD:8557581 | 9068941 | ClinVar Annotator: match by term: Carotid artery occlusion | ClinVar | PMID:10782930 more ... | Coronary Disease | | ISO | RGD:9832164 | 9068941 | ClinVar Annotator: match by term: Three Vessel Coronary Disease | ClinVar | PMID:10422804 more ... | Coronary Disease | | ISO | RGD:13442813 | 9068941 | ClinVar Annotator: match by term: Early-onset coronary artery disease | ClinVar | PMID:25741868 | genetic disease | | ISO | RGD:11059979 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:15199436 more ... | genetic disease | | ISO | RGD:8557582 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11810272 more ... | genetic disease | | ISO | RGD:40887454 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:12459547 more ... | Hypercholesterolemia | | ISO | RGD:8623904 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:10090484 more ... | Hypercholesterolemia | | ISO | RGD:11524129 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolemia | ClinVar | PMID:11462246 more ... | Hypercholesterolemia | | ISO | RGD:9686651 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:11810272 more ... | Hypercholesterolemia | | ISO | RGD:9686648 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:11139254 more ... | Hypercholesterolemia | | ISO | RGD:8569594 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:12436241 more ... | Hypercholesterolemia | | ISO | RGD:9686661 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:10559517 more ... | Hypercholesterolemia | | ISO | RGD:9686641 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:14974088 more ... | Hypercholesterolemia | | ISO | RGD:9686643 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:11668627 more ... | Hypercholesterolemia | | ISO | RGD:9686658 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:24507775 more ... | Hypercholesterolemia | | ISO | RGD:8569604 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:10735632 more ... | Hypercholesterolemia | | ISO | RGD:9686662 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:10208479 more ... | Hypercholesterolemia | | ISO | RGD:9686640 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:11435110 more ... | Hypercholesterolemia | | ISO | RGD:9686666 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:11845603 more ... | Hypercholesterolemia | | ISO | RGD:9686647 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:25487149 more ... | Hypercholesterolemia | | ISO | RGD:9686667 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:11737238 more ... | Hypercholesterolemia | | ISO | RGD:9686657 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:23669246, PMID:25741868 | Hypercholesterolemia | | ISO | RGD:9686663 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:16159606 more ... | Hypercholesterolemia | | ISO | RGD:9686656 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:15241806 more ... | Hypercholesterolemia | | ISO | RGD:9686652 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:11810272 more ... | Hypercholesterolemia | | ISO | RGD:9686645 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:10090484 more ... | Hypercholesterolemia | | ISO | RGD:9686644 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:11810272 more ... | Hypercholesterolemia | | ISO | RGD:9686638 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:10882754 more ... | Hypercholesterolemia | | ISO | RGD:8557582 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:11810272 more ... | Hypercholesterolemia | | ISO | RGD:9686655 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:10882754 more ... | Hypercholesterolemia | | ISO | RGD:8557628 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:10422803 more ... | Hypercholesterolemia | | ISO | RGD:9686745 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:10090473 more ... | Hypercholesterolemia | | ISO | RGD:13437574 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolemia | ClinVar | PMID:16314194, PMID:28492532 | Hypercholesterolemia | | ISO | RGD:9686659 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:15823288 more ... | Hypercholesterolemia | | ISO | RGD:9686642 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:10532689 more ... | Hypercholesterolemia | | ISO | RGD:9686660 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:17196209, PMID:25741868 | Hypercholesterolemia | | ISO | RGD:8569593 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:11810272 more ... | Hypercholesterolemia | | ISO | RGD:15040475 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolemia | ClinVar | | Hypercholesterolemia | | ISO | RGD:9686654 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:11810272 more ... | Hypercholesterolemia | | ISO | RGD:9686649 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:12436241 more ... | Hypercholesterolemia | | ISO | RGD:9686665 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:16250003 more ... | Hypercholesterolemia | | ISO | RGD:9686664 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:10657581 more ... | Hypercholesterolemia | | ISO | RGD:9686653 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:11857755 more ... | Hypercholesterolemia | | ISO | RGD:9686650 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:16250003 more ... | Hypercholesterolemia | | ISO | RGD:9686639 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:15199436 more ... | Hypercholesterolemia | | ISO | RGD:9686646 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar | PMID:11857755 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:11088011 | 9068941 | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar | PMID:11040093 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:8569594 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:12436241 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:8557625 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolemia more ... | ClinVar | PMID:10441197 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:9832191 | 9068941 | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar | PMID:10657581 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:10056799 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:10704205 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:8557581 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:10782930 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:9832173 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:10208479 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:8557592 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:11031227 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:8557589 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:11668627 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:10046834 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:11462246 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:9832216 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolemia more ... | ClinVar | PMID:12124988 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:8655021 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:16159606 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:11524861 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:16389549 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:9686643 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolemia more ... | ClinVar | PMID:11668627 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:9686648 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:11139254 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:8557629 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:11668627 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:11088017 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:10208479 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:10056797 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:10208479 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:8557627 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:10559517 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:8557580 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:11491306 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:11524895 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:10882754 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:11524269 | 9068941 | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar | PMID:18325082 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:11087781 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:10735632 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:11524350 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:10532689 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:8569596 | 9068941 | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar | PMID:11196104 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:11350009 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:10807540 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:8557628 | 9068941 | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar | PMID:10422803 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:10056798 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:1301956 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:10056800 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:15741231 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:8557576 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:12553167 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:11524724 | 9068941 | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar | PMID:11196104 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:11087761 | 9068941 | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar | PMID:15241806 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:8557620 | 9068941 | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar | PMID:10559517 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:11090845 | 9068941 | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar | PMID:11139254 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:11087806 | 9068941 | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar | PMID:11857755 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:11050277 | 9068941 | ClinVar Annotator: match by term: Hypercholesterolemia more ... | ClinVar | PMID:17347910 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:11525289 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:19411563 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:11087976 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:10735632 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:11524694 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:10978268 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:11088514 | 9068941 | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar | PMID:10790219 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:8557586 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:12436241 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:9832187 | 9068941 | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar | PMID:11040093 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:11087984 | 9068941 | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar | PMID:10090473 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:9832186 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:10735632 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:9832164 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:10422804 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:8557579 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:11313767 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:11524963 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:11754108 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:11634436 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:19026292 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:8557582 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:11810272 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:8557591 | 9068941 | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar | PMID:1301956 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:11634417 | 9068941 | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar | PMID:24033266 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:11525260 | 9068941 | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar | PMID:10978268 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:9686654 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:11810272 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:12891091 | 9068941 | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar | PMID:1999337 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:9686664 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:10657581 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:9686745 | 9068941 | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar | PMID:10090473 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:11088003 | 9068941 | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar | PMID:1301940 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:9686645 | 9068941 | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar | PMID:10090484 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:9832196 | 9068941 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar | PMID:17196209 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:8557577 | 9068941 | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar | PMID:10407508 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:11087779 | 9068941 | ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar | PMID:10735632 more ... | Hyperlipoproteinemia Type II | | ISO | RGD:13437442 | 9068941 | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar | PMID:24033266 | hyperlipoproteinemia type III | | ISO | RGD:40904280 | 9068941 | ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia | ClinVar | PMID:25741868 | hyperlipoproteinemia type III | | ISO | RGD:40904279 | 9068941 | ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia | ClinVar | PMID:25741868 | Smith-Lemli-Opitz syndrome | | ISO | RGD:11525085 | 9068941 | ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome | ClinVar | PMID:12730724 more ... | Smith-Lemli-Opitz syndrome | | ISO | RGD:11525002 | 9068941 | ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome | ClinVar | PMID:10208499 more ... | Stroke | | ISO | RGD:8557581 | 9068941 | ClinVar Annotator: match by term: Cerebrovascular accidents | ClinVar | PMID:10782930 more ... | |