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 | Eye Abnormalities | | IAGP | RGD:151348895 | 8554872 | ClinVar Annotator: match by term: Abnormality of the eye | 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:8646262 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | PMID:28492532 | 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: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:21071344 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 1 | ClinVar | | Leber congenital amaurosis 1 | | IAGP | RGD:21071343 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 1 | ClinVar | PMID:25324289 more ... | Leber congenital amaurosis 1 | | IAGP | RGD:21071345 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 1 | ClinVar | PMID:25741868 more ... | Leber congenital amaurosis 14 | | IAGP | RGD:28872428 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | | Leber congenital amaurosis 14 | | IAGP | RGD:126757064 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | PMID:25741868, PMID:28492532 | Leber congenital amaurosis 14 | | IAGP | RGD:28879314 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | PMID:28492532 | Leber congenital amaurosis 14 | | IAGP | RGD:28872126 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | PMID:28492532 | Leber congenital amaurosis 14 | | IAGP | RGD:21071345 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | PMID:25741868 more ... | 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:8558630 | 8554872 | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA more ... | ClinVar | PMID:17011878 more ... | 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: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: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: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:28879319 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | PMID:28492532 | 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: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:127237875 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | PMID:22570351, PMID:25741868 | Leber congenital amaurosis 14 | | IAGP | RGD:8646262 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | PMID:28492532 | 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:127286309 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | PMID:25741868 | 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:127286308 | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar | PMID:25741868 | 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:28872126 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | PMID:28492532 | retinitis pigmentosa | | IAGP | RGD:28879314 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | PMID:28492532 | 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:28879319 | 8554872 | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar | PMID:28492532 | 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: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: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:8646262 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | PMID:28492532 | 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: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 | | |
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Imported Disease Annotations - CTD
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Gene-Chemical Interaction Annotations Click to see Annotation Detail View
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Disease Annotations
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Human Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Genes and mutations causing retinitis pigmentosa. | Daiger SP, etal., Clin Genet. 2013 Aug;84(2):132-41. doi: 10.1111/cge.12203. Epub 2013 Jun 19. |
| 2. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
| 3. | Mechanisms involved in the intestinal absorption of dietary vitamin A and provitamin A carotenoids. | Harrison EH Biochim Biophys Acta. 2012 Jan;1821(1):70-7. Epub 2011 Jun 12. |
| 4. | Key enzymes of the retinoid (visual) cycle in vertebrate retina. | Kiser PD, etal., Biochim Biophys Acta. 2012 Jan;1821(1):137-51. Epub 2011 Apr 5. |
| 5. | Physiological insights into all-trans-retinoic acid biosynthesis. | Napoli JL Biochim Biophys Acta. 2012 Jan;1821(1):152-67. Epub 2011 May 19. |
| 6. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 7. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 8. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 9. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 10. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 11. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
| 12. | Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. | Thompson DA, etal., Nat Genet. 2001 Jun;28(2):123-4. |
| 13. | Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. | Wright AF, etal., Nat Rev Genet. 2010 Apr;11(4):273-84. doi: 10.1038/nrg2717. |
| 14. | Acidic retinoids synergize with vitamin A to enhance retinol uptake and STRA6, LRAT, and CYP26B1 expression in neonatal lung. | 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:21873635 |
| 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 | PMID:33961781 |
Genomics
Comparative Map Data
| LRAT (Homo sapiens - human) |
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| Lrat (Mus musculus - house mouse) |
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| Lrat (Rattus norvegicus - Norway rat) |
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| Lrat (Chinchilla lanigera - long-tailed chinchilla) |
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| LRAT (Pan paniscus - bonobo/pygmy chimpanzee) |
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| LRAT (Canis lupus familiaris - dog) |
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| Lrat (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| LRAT (Sus scrofa - pig) |
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| LRAT (Chlorocebus sabaeus - green monkey) |
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| Lrat (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in LRAT
161 total Variants 
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