Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Developmental Disabilities | | IAGP | RGD:9850305 | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25558065 more ... | intellectual disability | | IAGP | RGD:10401335 | 8554872 | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar | | Niemann-Pick disease type C1 | | IAGP | RGD:28874074 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C1 | ClinVar | PMID:28492532 | Niemann-Pick disease type C1 | | IAGP | RGD:8574328 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C1 | ClinVar | PMID:23352160 more ... | Niemann-Pick disease type C1 | | IAGP | RGD:8560512 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar | PMID:11567215 more ... | Niemann-Pick disease type C1 | | IAGP | RGD:8560518 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar | PMID:17470133, PMID:28492532 | Niemann-Pick disease type C1 | | IAGP | RGD:8566937 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar | PMID:15465422 more ... | Niemann-Pick disease type C1 | | IAGP | RGD:28893868 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C1 | ClinVar | | Niemann-Pick disease type C1 | | IAGP | RGD:28893864 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C1 | ClinVar | | Niemann-Pick disease type C1 | | IAGP | RGD:13522543 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C1 | ClinVar | | Niemann-Pick disease type C1 | | IAGP | RGD:15189489 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C1 | ClinVar | PMID:28492532 | Niemann-Pick disease type C1 | | IAGP | RGD:11620349 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar | PMID:28492532 | Niemann-Pick disease type C1 | | IAGP | RGD:11623619 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar | PMID:28492532 | Niemann-Pick disease type C1 | | IAGP | RGD:10052529 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar | PMID:28492532 | Niemann-Pick disease type C1 | | IAGP | RGD:11547992 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C1 | ClinVar | PMID:25741868, PMID:28492532 | Niemann-Pick disease type C1 | | IAGP | RGD:11623850 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar | | Niemann-Pick disease type C1 | | IAGP | RGD:11619322 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar | | Niemann-Pick disease type C1 | | IAGP | RGD:11616664 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar | | Niemann-Pick disease type C1 | | IAGP | RGD:11608127 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar | | Niemann-Pick disease type C1 | | IAGP | RGD:11613056 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar | | Niemann-Pick disease type C1 | | IAGP | RGD:8560509 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar | PMID:11125141 more ... | Niemann-Pick disease type C2 | | IAGP | RGD:8560515 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C2 | ClinVar | PMID:12447927 | Niemann-Pick disease type C2 | | IAGP | RGD:151728866 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:151807542 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:151810236 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:25145893, PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:151831916 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:151809594 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:151718886 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:150451247 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:25741868, PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:151720306 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:151835932 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:151750033 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:151766107 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:151888264 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:151868879 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:17576681 more ... | Niemann-Pick disease type C2 | | IAGP | RGD:11643032 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:150532836 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:8574328 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:23352160 more ... | Niemann-Pick disease type C2 | | IAGP | RGD:151351441 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:25741868 | Niemann-Pick disease type C2 | | IAGP | RGD:8560511 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:11567215 more ... | Niemann-Pick disease type C2 | | IAGP | RGD:14704233 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:25145893, PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:8566938 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:8560512 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:11567215 more ... | Niemann-Pick disease type C2 | | IAGP | RGD:26897723 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:25145893, PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:8560518 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:17470133, PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:8566937 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:15465422 more ... | Niemann-Pick disease type C2 | | IAGP | RGD:152071928 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:152163341 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:152100339 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:152040788 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:152026071 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:152132290 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:152087777 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:152032512 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:152063201 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:152110758 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:152133235 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:152120992 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:152080724 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:152067019 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:152150433 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:152143564 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:152064350 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:152074288 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:13838198 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:25741868, PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:152129398 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:152048881 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:152064886 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:152138649 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:152034188 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:152067489 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:40905035 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | | Niemann-Pick disease type C2 | | IAGP | RGD:40905037 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | | Niemann-Pick disease type C2 | | IAGP | RGD:40905033 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | | Niemann-Pick disease type C2 | | IAGP | RGD:40905036 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:25741868 | Niemann-Pick disease type C2 | | IAGP | RGD:28890739 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:25741868 | Niemann-Pick disease type C2 | | IAGP | RGD:14718423 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:11620349 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:12850007 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C2 | ClinVar | PMID:25741868 | Niemann-Pick disease type C2 | | IAGP | RGD:8566939 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C2 | ClinVar | PMID:11567215 | Niemann-Pick disease type C2 | | IAGP | RGD:11522852 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C2 | ClinVar | PMID:17470133 | Niemann-Pick disease type C2 | | IAGP | RGD:11623619 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:13787973 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C2 | ClinVar | | Niemann-Pick disease type C2 | | IAGP | RGD:8560517 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C2 | ClinVar | PMID:16126423 more ... | Niemann-Pick disease type C2 | | IAGP | RGD:13783406 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C2 | ClinVar | | Niemann-Pick disease type C2 | | IAGP | RGD:13786995 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C2 | ClinVar | PMID:12955717 more ... | Niemann-Pick disease type C2 | | IAGP | RGD:13788818 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C2 | ClinVar | | Niemann-Pick disease type C2 | | IAGP | RGD:13788447 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C2 | ClinVar | PMID:23433426, PMID:24082139 | Niemann-Pick disease type C2 | | IAGP | RGD:13785324 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C2 | ClinVar | | Niemann-Pick disease type C2 | | IAGP | RGD:13782497 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C2 | ClinVar | | Niemann-Pick disease type C2 | | IAGP | RGD:127262415 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:25145893, PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:127254185 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:40888860 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | | Niemann-Pick disease type C2 | | IAGP | RGD:40888827 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | | Niemann-Pick disease type C2 | | IAGP | RGD:40888829 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | | Niemann-Pick disease type C2 | | IAGP | RGD:40888828 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | | Niemann-Pick disease type C2 | | IAGP | RGD:9850305 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:25558065 more ... | Niemann-Pick disease type C2 | | IAGP | RGD:127247330 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:127243506 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:40888861 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | | Niemann-Pick disease type C2 | | IAGP | RGD:127282287 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:127274147 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:127263441 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:127240402 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:13784139 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:25145893, PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:127235971 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:15119083 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:40905034 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:11547992 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:25741868, PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:11638092 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:127286529 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:151759916 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:25145893, PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:127298784 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:13836445 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:8560514 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C2 | ClinVar | PMID:11567215 | Niemann-Pick disease type C2 | | IAGP | RGD:127266371 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:25145893, PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:151832930 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:17576681 more ... | Niemann-Pick disease type C2 | | IAGP | RGD:127277576 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:127319339 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:8560510 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C2 | ClinVar | PMID:11125141 | Niemann-Pick disease type C2 | | IAGP | RGD:127234756 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:127312497 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:8688900 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C2 | ClinVar | | Niemann-Pick disease type C2 | | IAGP | RGD:127324533 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:151775359 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:151842154 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:10052529 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:11642809 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:8566941 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C2 | ClinVar | PMID:11125141 | Niemann-Pick disease type C2 | | IAGP | RGD:26901981 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:25145893, PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:26898753 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:15189489 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:8560509 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:11125141 more ... | Niemann-Pick disease type C2 | | IAGP | RGD:127295492 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:127298165 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:151836708 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:15130983 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:151872318 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:127318638 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:127296586 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:11640478 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease type C2 | ClinVar | PMID:25741868 | Niemann-Pick disease type C2 | | IAGP | RGD:127293069 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:8566940 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:15937921 more ... | Niemann-Pick disease type C2 | | IAGP | RGD:13523097 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:13523695 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:127302067 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:127316813 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:15131035 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:28874074 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | Niemann-Pick disease type C2 | | IAGP | RGD:13782543 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type C2 | ClinVar | PMID:28492532 | |
 |
Welcome {{ username}}
Message Center
{{ messageCount }} Messages
Watched Genes
{{$index + 1}}. {{ watchedObject.symbol }} (RGD ID:{{watchedObject.rgdId}})
Watched Ontology Terms
{{gene.symbol}}: {{ gene.description }}
|
| Save what matters to you |
| {{ loginError }} |
| Sign in with your RGD account |
| Create New Account | Recover Password |
Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
 |
Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
|
MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
|
||||||||
Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Phenotype Annotations Click to see Annotation Detail View
Human Phenotype
Disease Annotations
Click to see Annotation Detail View
|
|
|
Gene-Chemical Interaction Annotations
Click to see Annotation Detail View
Gene Ontology Annotations
Click to see Annotation Detail View
Biological Process
|
|
|
Cellular Component
|
|
|
Molecular Function
|
|
|
Phenotype Annotations
Click to see Annotation Detail View
Human Phenotype
|
|
|
References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. | Millat G, etal., Am J Hum Genet. 2001 Nov;69(5):1013-21. Epub 2001 Sep 20. |
| 2. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 5. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
Additional References at PubMed
| PMID:1693137 | PMID:8125298 | PMID:8418812 | PMID:8924505 | PMID:10479477 | PMID:11125141 | PMID:12125814 | PMID:12398991 | PMID:12447927 | PMID:12477932 | PMID:12591949 | PMID:12719428 |
| PMID:14662784 | PMID:15110773 | PMID:15489334 | PMID:15937921 | PMID:16141411 | PMID:16374838 | PMID:16548883 | PMID:16606609 | PMID:16772431 | PMID:17018531 | PMID:17387528 | PMID:17470133 |
| PMID:17895371 | PMID:18029348 | PMID:18636124 | PMID:18772377 | PMID:18823126 | PMID:19252935 | PMID:19664597 | PMID:19723497 | PMID:19746448 | PMID:19913121 | PMID:20007703 | PMID:20301334 |
| PMID:20301473 | PMID:20351267 | PMID:20628086 | PMID:20650896 | PMID:20674861 | PMID:21084287 | PMID:21253586 | PMID:21740003 | PMID:21811417 | PMID:21873635 | PMID:22095670 | PMID:22179027 |
| PMID:22183894 | PMID:22273177 | PMID:22939629 | PMID:22962690 | PMID:22990118 | PMID:23022198 | PMID:23376485 | PMID:23533145 | PMID:23733943 | PMID:23791309 | PMID:23814065 | PMID:24001314 |
| PMID:24438076 | PMID:24501203 | PMID:24709320 | PMID:24915861 | PMID:24981860 | PMID:25220527 | PMID:25251378 | PMID:25754535 | PMID:25764212 | PMID:26186194 | PMID:26296895 | PMID:26846330 |
| PMID:27238017 | PMID:27339554 | PMID:27402802 | PMID:27533706 | PMID:27551080 | PMID:27792009 | PMID:27940359 | PMID:28095804 | PMID:28205170 | PMID:28514442 | PMID:28808920 | PMID:28865947 |
| PMID:29053956 | PMID:29084218 | PMID:29874879 | PMID:30091016 | PMID:30181526 | PMID:31521631 | PMID:31580258 | PMID:32353859 | PMID:32544384 | PMID:33001583 | PMID:33060197 | PMID:33422548 |
| PMID:33545068 | PMID:33723331 | PMID:33961781 | PMID:33990640 | PMID:34420959 | PMID:34445279 | PMID:34685683 | PMID:34709727 | PMID:35271311 |
Genomics
