Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | breast ductal carcinoma | | IAGP | RGD:11039573 | 8554872 | ClinVar Annotator: match by term: Ductal breast carcinoma | ClinVar | | cone-rod dystrophy | | IAGP | RGD:11585007 | 8554872 | ClinVar Annotator: match by term: Rod-cone dystrophy | ClinVar | PMID:25741868 | fundus dystrophy | | IAGP | RGD:11650663 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11645905 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11589166 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11351253 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11585098 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11588097 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11585795 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11583193 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11653483 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11651974 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11648134 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11587463 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11587259 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11587719 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11650921 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11649868 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11645937 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11584471 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11586539 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11587577 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11648714 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11646039 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11588818 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11649187 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11582748 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11648202 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11587146 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11645793 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11589401 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11649931 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | RGD:11651212 | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:11582412 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | PMID:28492532 | Leber congenital amaurosis | | IAGP | RGD:14705347 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | PMID:24033266 | Leber congenital amaurosis | | IAGP | RGD:11588399 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | PMID:28492532 | Leber congenital amaurosis | | IAGP | RGD:11585007 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | PMID:25741868 | Leber congenital amaurosis | | IAGP | RGD:11584585 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:11583558 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:11648134 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:11649708 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:11647545 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:9693044 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:11653466 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:11587719 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:11584117 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:11650921 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:11649868 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:11586539 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:11648714 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:11646039 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:11645124 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:11645029 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:11649187 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:11586767 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:11586601 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:11589997 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:11654023 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:11587146 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:8646262 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:11589401 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:11584113 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:11583010 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:11585358 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis | | IAGP | RGD:11644352 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | | Leber congenital amaurosis 1 | | IAGP | RGD:21071343 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 1 | ClinVar | | Leber congenital amaurosis 1 | | IAGP | RGD:21071344 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 1 | ClinVar | | Leber congenital amaurosis 1 | | IAGP | RGD:21071345 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 1 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28872428 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11582412 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | PMID:28492532 | Leber congenital amaurosis 14 | | IAGP | RGD:28903971 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | PMID:28492532 | Leber congenital amaurosis 14 | | IAGP | RGD:28883776 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28872741 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28904756 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28880409 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28872126 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28880096 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28875255 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28904486 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28880413 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28880109 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28884557 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28879314 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28884155 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28880421 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28879319 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28904979 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28904493 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28879324 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28904975 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28884159 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11645937 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11647545 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28885259 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11645029 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11645905 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28872426 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11651212 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28904235 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28873243 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28884562 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11584117 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11645124 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28885255 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11585007 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | PMID:25741868 | Leber congenital amaurosis 14 | | IAGP | RGD:11650663 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11587259 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11586601 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11585098 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11588818 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11582748 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11648202 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:39456322 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11584471 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:39456324 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11584113 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11583558 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11653466 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11645793 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28872738 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11654023 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11584585 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11587577 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28880104 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28904240 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11583193 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11649931 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11644352 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11589166 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11651974 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11588097 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11589997 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11583010 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11649708 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:9693044 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11586767 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11585358 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11587463 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11588399 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | PMID:28492532 | Leber congenital amaurosis 14 | | IAGP | RGD:8646934 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | PMID:22025579, PMID:28492532 | Leber congenital amaurosis 14 | | IAGP | RGD:28872995 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:8646262 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11653483 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:11585795 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:8558629 | 8554872 | ClinVar Annotator: match by term: RETINAL DYSTROPHY more ... | ClinVar | PMID:11381255 | Leber congenital amaurosis 14 | | IAGP | RGD:8558630 | 8554872 | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA more ... | ClinVar | PMID:17011878, PMID:18055821 | Leber congenital amaurosis 14 | | IAGP | RGD:26918953 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | PMID:28492532 | Leber congenital amaurosis 14 | | IAGP | RGD:39456320 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:8596767 | 8554872 | ClinVar Annotator: match by term: RETINAL DYSTROPHY more ... | ClinVar | PMID:11381255 | Leber congenital amaurosis 14 | | IAGP | RGD:28884964 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28885249 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28872433 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:39456321 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:28885251 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28885255 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:12905502 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | PMID:25741868, PMID:28492532 | retinitis pigmentosa | | IAGP | RGD:11582412 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | PMID:28492532 | retinitis pigmentosa | | IAGP | RGD:28903971 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | PMID:28492532 | retinitis pigmentosa | | IAGP | RGD:40815995 | 8554872 | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar | PMID:30054919 | retinitis pigmentosa | | IAGP | RGD:10045323 | 8554872 | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar | PMID:25741868, PMID:26355662 | retinitis pigmentosa | | IAGP | RGD:28872738 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28884562 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28880104 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28873243 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28904235 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28872995 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28872433 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28872741 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28884155 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28880421 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28885249 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28884964 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28872428 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28884557 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28904756 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28880409 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28880109 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28872126 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28878906 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28885251 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28883785 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:8646934 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | PMID:22025579, PMID:28492532 | retinitis pigmentosa | | IAGP | RGD:28880413 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28879319 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28879314 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28875255 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28904975 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:14698534 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | PMID:30718709 | retinitis pigmentosa | | IAGP | RGD:28884159 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28904486 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28883776 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28880096 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28879324 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28904979 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28904493 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11585007 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | PMID:25741868 | retinitis pigmentosa | | IAGP | RGD:11588399 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | PMID:28492532 | retinitis pigmentosa | | IAGP | RGD:11645905 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11589166 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11585098 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11588097 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11585795 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11584585 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11583558 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11583193 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11653483 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11651974 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11648134 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11649708 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11647545 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11587463 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:9693044 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11587259 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11653466 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11587719 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11584117 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11650921 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11649868 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11645937 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11584471 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28904240 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11586539 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11587577 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11648714 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11646039 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11645124 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11588818 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11645029 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11649187 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:9480319 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11586767 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11582748 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11586601 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11648202 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11589997 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11654023 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11587146 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:8646262 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28885259 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11645793 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11589401 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11584113 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11649931 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11583010 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11585358 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11644352 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11651212 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:11650663 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar | | retinitis pigmentosa | | IAGP | RGD:28872426 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | |
 |
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 - 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
RGD Manual Annotations
Imported Annotations - SMPDB
Imported Annotations - KEGG (archival)
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
|
|
|
Molecular Pathway Annotations
Click to see Annotation Detail View
|
|
Phenotype Annotations
Click to see Annotation Detail View
Human Phenotype
|
|
|
References
References - curated
| 1. | Daiger SP, etal., Clin Genet. 2013 Aug;84(2):132-41. doi: 10.1111/cge.12203. Epub 2013 Jun 19. |
| 2. | GOA_HUMAN data from the GO Consortium |
| 3. | Harrison EH Biochim Biophys Acta. 2012 Jan;1821(1):70-7. Epub 2011 Jun 12. |
| 4. | Kiser PD, etal., Biochim Biophys Acta. 2012 Jan;1821(1):137-51. Epub 2011 Apr 5. |
| 5. | Napoli JL Biochim Biophys Acta. 2012 Jan;1821(1):152-67. Epub 2011 May 19. |
| 6. | OMIM Disease Annotation Pipeline |
| 7. | Pipeline to import KEGG annotations from KEGG into RGD |
| 8. | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 9. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 10. | RGD automated import pipeline for gene-chemical interactions |
| 11. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
| 12. | Thompson DA, etal., Nat Genet. 2001 Jun;28(2):123-4. |
| 13. | Wright AF, etal., Nat Rev Genet. 2010 Apr;11(4):273-84. doi: 10.1038/nrg2717. |
| 14. | Wu L and Ross AC, J Lipid Res. 2010 Feb;51(2):378-87. Epub 2009 Aug 20. |
Additional References at PubMed
| PMID:1322170 | PMID:9767084 | PMID:9920938 | PMID:10819989 | PMID:11133845 | PMID:11162450 | PMID:12009892 | PMID:12477932 | PMID:14581364 | PMID:14596594 | PMID:14702039 | PMID:14704332 |
| PMID:15161698 | PMID:15186777 | PMID:15474300 | PMID:15489334 | PMID:15583024 | PMID:16115871 | PMID:16344560 | PMID:16939223 | PMID:17011878 | PMID:17438524 | PMID:18055821 | PMID:18544127 |
| PMID:18652909 | PMID:18823527 | PMID:19471114 | PMID:19665987 | PMID:20301475 | PMID:20301590 | PMID:20356843 | PMID:20574532 | PMID:20591486 | PMID:20801516 | PMID:21465477 | PMID:22559933 |
| PMID:22570351 | PMID:22605381 | PMID:23890161 | PMID:24036882 | PMID:24433184 | PMID:24613493 | PMID:25236354 | PMID:25260806 | PMID:25383759 | PMID:26186194 | PMID:28514442 | PMID:28758396 |
| PMID:28942093 | PMID:29973277 | PMID:30285347 | PMID:32296183 |
Genomics
