Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | IAGP | RGD:10397765 | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:25741868, PMID:30763456 | autism spectrum disorder | | IAGP | RGD:10397760 | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:30504930 | autism spectrum disorder | | IAGP | RGD:14351649 | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:30763456 | autosomal dominant mental retardation 20 | | IAGP | RGD:10406299 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:24088041, PMID:26633545 | autosomal dominant mental retardation 20 | | IAGP | RGD:126773113 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:126733873 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:126748056 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:10406691 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:25741868, PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:126759510 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:126726992 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:38474623 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:25741868, PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:126762349 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:126730072 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:126740037 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:150473024 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | | autosomal dominant mental retardation 20 | | IAGP | RGD:150473022 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | | autosomal dominant mental retardation 20 | | IAGP | RGD:150473026 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | | autosomal dominant mental retardation 20 | | IAGP | RGD:150416690 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | | autosomal dominant mental retardation 20 | | IAGP | RGD:126728526 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:25741868 | autosomal dominant mental retardation 20 | | IAGP | RGD:126769285 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:40814812 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:25741868 | autosomal dominant mental retardation 20 | | IAGP | RGD:40814810 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:25741868 | autosomal dominant mental retardation 20 | | IAGP | RGD:38597152 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | | autosomal dominant mental retardation 20 | | IAGP | RGD:38597992 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:25741868 | autosomal dominant mental retardation 20 | | IAGP | RGD:38597852 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:25741868 | autosomal dominant mental retardation 20 | | IAGP | RGD:38457662 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | | autosomal dominant mental retardation 20 | | IAGP | RGD:13621357 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:25741868, PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:150337976 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | | autosomal dominant mental retardation 20 | | IAGP | RGD:14703068 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:10396356 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:14706538 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:38460370 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:25741868 | autosomal dominant mental retardation 20 | | IAGP | RGD:25327671 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:25741869 | autosomal dominant mental retardation 20 | | IAGP | RGD:10397767 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:19592390 more ... | autosomal dominant mental retardation 20 | | IAGP | RGD:8640977 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:18414213, PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:10052127 | 8554872 | ClinVar Annotator: match by term: Intellectual Disability more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:13818409 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:13820619 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:13815144 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:13802422 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127262334 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:11345090 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:27255693 | autosomal dominant mental retardation 20 | | IAGP | RGD:127249346 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:20513142, PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127246590 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:38475255 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127250158 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127280489 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127248696 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127257070 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127258498 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127280475 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127258094 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:16199547 more ... | autosomal dominant mental retardation 20 | | IAGP | RGD:127261819 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127238140 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:20513142, PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127260234 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127268506 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127271688 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:14712333 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:20513142, PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127245355 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127273208 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:11596872 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:8598121 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:7679508 | autosomal dominant mental retardation 20 | | IAGP | RGD:127330523 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:38476986 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:15113466 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:12841541 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:13522274 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:15118819 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:9682793 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:18414213 more ... | autosomal dominant mental retardation 20 | | IAGP | RGD:127267142 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:38476806 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:8691939 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127243662 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:16199547 more ... | autosomal dominant mental retardation 20 | | IAGP | RGD:127238531 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127232234 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:13506509 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127236495 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:38474151 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127318872 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:34891002 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:9682792 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:18414213 | autosomal dominant mental retardation 20 | | IAGP | RGD:11636510 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:8604444 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:20513142 | autosomal dominant mental retardation 20 | | IAGP | RGD:11610000 | 8554872 | ClinVar Annotator: match by term: Intellectual Disability more ... | ClinVar | | autosomal dominant mental retardation 20 | | IAGP | RGD:13494195 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:11644914 | 8554872 | ClinVar Annotator: match by term: Intellectual Disability more ... | ClinVar | | autosomal dominant mental retardation 20 | | IAGP | RGD:13492547 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:8604443 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:20513142 | autosomal dominant mental retardation 20 | | IAGP | RGD:38480245 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:16199547 more ... | autosomal dominant mental retardation 20 | | IAGP | RGD:26920300 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:38482029 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:13484843 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:11653189 | 8554872 | ClinVar Annotator: match by term: Intellectual Disability more ... | ClinVar | | autosomal dominant mental retardation 20 | | IAGP | RGD:10397759 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:11635429 | 8554872 | ClinVar Annotator: match by term: Intellectual Disability more ... | ClinVar | | autosomal dominant mental retardation 20 | | IAGP | RGD:38495926 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127237519 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127235215 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:20513142 more ... | autosomal dominant mental retardation 20 | | IAGP | RGD:11589138 | 8554872 | ClinVar Annotator: match by term: Intellectual Disability more ... | ClinVar | | autosomal dominant mental retardation 20 | | IAGP | RGD:11635792 | 8554872 | ClinVar Annotator: match by term: Intellectual Disability more ... | ClinVar | | autosomal dominant mental retardation 20 | | IAGP | RGD:127333882 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:11583362 | 8554872 | ClinVar Annotator: match by term: Intellectual Disability more ... | ClinVar | | autosomal dominant mental retardation 20 | | IAGP | RGD:127275701 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:15146498 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:38492729 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:26922596 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:11660809 | 8554872 | ClinVar Annotator: match by term: Intellectual Disability more ... | ClinVar | | autosomal dominant mental retardation 20 | | IAGP | RGD:13480893 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:12833418 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:10405452 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:25741868 | autosomal dominant mental retardation 20 | | IAGP | RGD:38482763 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:11666593 | 8554872 | ClinVar Annotator: match by term: Intellectual Disability more ... | ClinVar | | autosomal dominant mental retardation 20 | | IAGP | RGD:11591516 | 8554872 | ClinVar Annotator: match by term: Intellectual Disability more ... | ClinVar | | autosomal dominant mental retardation 20 | | IAGP | RGD:127336501 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127333655 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127336536 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:11653884 | 8554872 | ClinVar Annotator: match by term: Intellectual Disability more ... | ClinVar | | autosomal dominant mental retardation 20 | | IAGP | RGD:9682794 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:25741868, PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:26919386 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127335911 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127318983 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:26891480 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:20333642 more ... | autosomal dominant mental retardation 20 | | IAGP | RGD:127335912 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:10052998 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:12837170 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:15144063 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127315254 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:11652378 | 8554872 | ClinVar Annotator: match by term: Intellectual Disability more ... | ClinVar | | autosomal dominant mental retardation 20 | | IAGP | RGD:11610328 | 8554872 | ClinVar Annotator: match by term: Intellectual Disability more ... | ClinVar | | autosomal dominant mental retardation 20 | | IAGP | RGD:127334696 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:26894601 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:27748065, PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127328810 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:12841190 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:11051306 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532, PMID:28554332 | autosomal dominant mental retardation 20 | | IAGP | RGD:8570759 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:20513142 | autosomal dominant mental retardation 20 | | IAGP | RGD:13480778 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127317658 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:26898404 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:13506536 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:12837743 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:14395653 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:25741868 | autosomal dominant mental retardation 20 | | IAGP | RGD:127241503 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127293017 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:8570760 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:23001426 | autosomal dominant mental retardation 20 | | IAGP | RGD:15190154 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127288416 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:15180826 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:13527456 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:13612818 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532, PMID:29706646 | autosomal dominant mental retardation 20 | | IAGP | RGD:38494116 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:10052494 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:8691940 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:25741868, PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:10397758 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:25741868, PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:127320225 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:15108043 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:15122273 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:13508868 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | | autosomal dominant mental retardation 20 | | IAGP | RGD:126917063 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:9682795 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:18414213 | autosomal dominant mental retardation 20 | | IAGP | RGD:126910144 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:126919767 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | autosomal dominant mental retardation 20 | | IAGP | RGD:13492561 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:17576681 more ... | autosomal dominant mental retardation 20 | | IAGP | RGD:11654834 | 8554872 | ClinVar Annotator: match by term: Intellectual Disability more ... | ClinVar | | autosomal dominant mental retardation 20 | | IAGP | RGD:11655475 | 8554872 | ClinVar Annotator: match by term: Intellectual Disability more ... | ClinVar | | autosomal dominant mental retardation 20 | | IAGP | RGD:127309847 | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | epilepsy | | IAGP | RGD:40888358 | 8554872 | ClinVar Annotator: match by term: Seizures | ClinVar | | epilepsy | | IAGP | RGD:12741937 | 8554872 | ClinVar Annotator: match by term: Seizure Disorders | ClinVar | | familial adenomatous polyposis 1 | | IAGP | RGD:13487787 | 8554872 | ClinVar Annotator: match by term: Familial adenomatous polyposis 1 | ClinVar | PMID:18487285 more ... | frontotemporal dementia | | IAGP | RGD:12907367 | 8554872 | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar | | frontotemporal dementia | | IAGP | RGD:11666593 | 8554872 | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar | | Generalized Epilepsy | | IAGP | RGD:21404657 | 8554872 | ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar | PMID:32581362 | genetic disease | | IAGP | RGD:13530656 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:13532857 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:13531538 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | Hereditary Neoplastic Syndromes | | IAGP | RGD:13487787 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:18487285 more ... | intellectual disability | | IAGP | RGD:10397765 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868, PMID:30763456 | intellectual disability | | IAGP | RGD:40814201 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | intellectual disability | | IAGP | RGD:40814198 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | Neurodevelopmental Disorders | | IAGP | RGD:13611443 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | Neurodevelopmental Disorders | | IAGP | RGD:14698291 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | visual epilepsy | | IAGP | RGD:40888358 | 8554872 | ClinVar Annotator: match by term: Seizures | ClinVar | | |
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Imported Disease Annotations - CTD
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
Molecular Pathway Annotations Click to see Annotation Detail View
Imported Annotations - KEGG (archival)
Phenotype Annotations Click to see Annotation Detail View
Human Phenotype
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Molecular Function
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Phenotype Annotations
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Human Phenotype
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References
References - curated
| 1. | Feng B, etal., Am J Physiol Endocrinol Metab. 2008 Jun;294(6):E1119-26. Epub 2008 Apr 15. |
| 2. | GOA_HUMAN data from the GO Consortium |
| 3. | OMIM Disease Annotation Pipeline |
| 4. | Pereira AH, etal., PLoS One. 2009 Dec 29;4(12):e8472. |
| 5. | Pipeline to import KEGG annotations from KEGG into RGD |
| 6. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 7. | RGD automated import pipeline for gene-chemical interactions |
| 8. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
| 9. | Scorza CA, etal., Arq Neuropsiquiatr. 2008 Sep;66(3B):731-5. |
| 10. | Xu J, etal., J Biol Chem. 2006 Apr 7;281(14):9152-62. Epub 2006 Feb 9. |
| 11. | Zhang Y, etal., Aquat Toxicol. 2013 Jul 29;142-143C:26-32. doi: 10.1016/j.aquatox.2013.07.014. |
Additional References at PubMed
| PMID:7679508 | PMID:8455629 | PMID:8548800 | PMID:8575763 | PMID:8575784 | PMID:8663403 | PMID:8900141 | PMID:8948587 | PMID:9001254 | PMID:9069290 | PMID:9384584 | PMID:9418854 |
| PMID:9748305 | PMID:9753748 | PMID:9770491 | PMID:9798649 | PMID:9857019 | PMID:9858528 | PMID:10082551 | PMID:10330143 | PMID:10458488 | PMID:10523670 | PMID:10737771 | PMID:10790371 |
| PMID:10805738 | PMID:11160896 | PMID:11279209 | PMID:11486037 | PMID:11504882 | PMID:11535832 | PMID:11554755 | PMID:11744164 | PMID:11792813 | PMID:11809751 | PMID:12061776 | PMID:12130539 |
| PMID:12135755 | PMID:12376544 | PMID:12477932 | PMID:12659851 | PMID:12709441 | PMID:12861002 | PMID:15084602 | PMID:15140898 | PMID:15276183 | PMID:15340086 | PMID:15342556 | PMID:15486975 |
| PMID:15561718 | PMID:15743821 | PMID:15743823 | PMID:15831463 | PMID:15834131 | PMID:15923648 | PMID:15964851 | PMID:16043483 | PMID:16344560 | PMID:16478538 | PMID:16504037 | PMID:16510869 |
| PMID:17611778 | PMID:17696759 | PMID:17903302 | PMID:18029348 | PMID:18067759 | PMID:18079734 | PMID:18332106 | PMID:18463162 | PMID:18588859 | PMID:18660489 | PMID:18950845 | PMID:19011954 |
| PMID:19065516 | PMID:19093215 | PMID:19274049 | PMID:19453261 | PMID:19553684 | PMID:19592390 | PMID:19720801 | PMID:19751190 | PMID:19801982 | PMID:19828686 | PMID:19913121 | PMID:20211142 |
| PMID:20333642 | PMID:20412115 | PMID:20513142 | PMID:20610535 | PMID:20628086 | PMID:20709755 | PMID:20881960 | PMID:20936779 | PMID:21060863 | PMID:21170291 | PMID:21481790 | PMID:21533022 |
| PMID:21556048 | PMID:21610032 | PMID:21652706 | PMID:21849497 | PMID:21873635 | PMID:21901155 | PMID:21988832 | PMID:22073279 | PMID:22139419 | PMID:22275376 | PMID:22363514 | PMID:22449245 |
| PMID:22504420 | PMID:22718505 | PMID:22798246 | PMID:22997707 | PMID:23001426 | PMID:23174904 | PMID:23226416 | PMID:23382706 | PMID:23389741 | PMID:23400010 | PMID:23468913 | PMID:23572186 |
| PMID:23752268 | PMID:23776548 | PMID:23888946 | PMID:24008018 | PMID:24162737 | PMID:24249740 | PMID:24290359 | PMID:24337390 | PMID:24412363 | PMID:24988463 | PMID:25056061 | PMID:25328135 |
| PMID:25336633 | PMID:25352737 | PMID:25404735 | PMID:25416133 | PMID:25429064 | PMID:25609649 | PMID:25691421 | PMID:25733682 | PMID:25789873 | PMID:26172269 | PMID:26184978 | PMID:26426104 |
| PMID:26487643 | PMID:26864752 | PMID:26900922 | PMID:26921792 | PMID:26923194 | PMID:27144530 | PMID:27255693 | PMID:27268728 | PMID:27276684 | PMID:27297623 | PMID:27337099 | PMID:27479909 |
| PMID:27553283 | PMID:27616567 | PMID:27664809 | PMID:27907007 | PMID:28017720 | PMID:28456137 | PMID:28473437 | PMID:28473536 | PMID:28482719 | PMID:28514442 | PMID:28799067 | PMID:28821601 |
| PMID:28902616 | PMID:29104469 | PMID:29112298 | PMID:29413154 | PMID:29431698 | PMID:29468350 | PMID:29526696 | PMID:29678826 | PMID:29714661 | PMID:29863696 | PMID:29995456 | PMID:30006604 |
| PMID:30335237 | PMID:30376817 | PMID:30445463 | PMID:31040226 | PMID:31094920 | PMID:31140610 | PMID:31254364 | PMID:31900516 | PMID:31988313 | PMID:32003456 | PMID:32017034 | PMID:32046534 |
| PMID:32140074 | PMID:32186750 | PMID:32296183 | PMID:32410261 | PMID:32513696 | PMID:33187986 | PMID:33270893 | PMID:33303006 | PMID:33831796 | PMID:34022131 |
Genomics
