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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | adrenoleukodystrophy | | ISO | RGD:14710872 | 9068941 | ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar | PMID:28492532 | autistic disorder | | ISO | RGD:14351525 | 9068941 | ClinVar Annotator: match by term: Autistic disorder of childhood onset | ClinVar | PMID:21681106, PMID:30208311 | cardiomyopathy | | ISO | RGD:8569388 | 9068941 | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar | PMID:28492532 | cardiomyopathy | | ISO | RGD:8605117 | 9068941 | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar | PMID:20474083 more ... | cardiomyopathy | | ISO | RGD:8605119 | 9068941 | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar | PMID:24033266 more ... | cardiomyopathy | | ISO | RGD:8605118 | 9068941 | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar | PMID:24033266 more ... | cardiomyopathy | | ISO | RGD:14689165 | 9068941 | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar | PMID:25741868 | cardiomyopathy | | ISO | RGD:11349507 | 9068941 | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar | PMID:25741868, PMID:28492532 | cardiomyopathy | | ISO | RGD:11346480 | 9068941 | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar | PMID:25741868, PMID:28492532 | cardiomyopathy | | ISO | RGD:14689163 | 9068941 | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar | PMID:25741868 | cardiomyopathy | | ISO | RGD:13522462 | 9068941 | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar | PMID:25741868 | cardiomyopathy | | ISO | RGD:15014958 | 9068941 | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar | PMID:25741868 | cardiomyopathy | | ISO | RGD:8605120 | 9068941 | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar | PMID:24033266 more ... | dilated cardiomyopathy | | ISO | RGD:11040387 | 9068941 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar | | dilated cardiomyopathy 1A | | ISO | RGD:39456245 | 9068941 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar | PMID:25741868 | dilated cardiomyopathy 1B | | ISO | RGD:14975433 | 9068941 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1B | ClinVar | PMID:25741868 | Emery-Dreifuss muscular dystrophy | | ISO | RGD:15137136 | 9068941 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar | PMID:28492532 | Emery-Dreifuss muscular dystrophy | | ISO | RGD:13533445 | 9068941 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy, X-linked | ClinVar | PMID:28492532 | Emery-Dreifuss muscular dystrophy | | ISO | RGD:40906238 | 9068941 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar | PMID:28492532 | Emery-Dreifuss muscular dystrophy | | ISO | RGD:9691626 | 9068941 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar | PMID:10382909 more ... | Emery-Dreifuss muscular dystrophy | | ISO | RGD:10055771 | 9068941 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar | PMID:28492532 | Emery-Dreifuss muscular dystrophy | | ISO | RGD:10055769 | 9068941 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar | PMID:28492532 | Emery-Dreifuss muscular dystrophy | | ISO | RGD:8605119 | 9068941 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy, X-linked | ClinVar | PMID:24033266 more ... | Emery-Dreifuss muscular dystrophy | | ISO | RGD:8605117 | 9068941 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy, X-linked | ClinVar | PMID:20474083 more ... | Emery-Dreifuss muscular dystrophy | | ISO | RGD:10055772 | 9068941 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar | PMID:28492532 | Emery-Dreifuss muscular dystrophy | | ISO | RGD:10055773 | 9068941 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar | PMID:28492532 | Emery-Dreifuss muscular dystrophy | | ISO | RGD:15142636 | 9068941 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar | PMID:28492532 | Emery-Dreifuss muscular dystrophy | | ISO | RGD:15102664 | 9068941 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar | PMID:28492532 | Emery-Dreifuss muscular dystrophy | | ISO | RGD:13446242 | 9068941 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar | PMID:28492532 | Emery-Dreifuss muscular dystrophy | | ISO | RGD:11349507 | 9068941 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar | PMID:25741868, PMID:28492532 | Emery-Dreifuss muscular dystrophy | | ISO | RGD:8605122 | 9068941 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy, X-linked | ClinVar | PMID:24033266, PMID:28492532 | Emery-Dreifuss muscular dystrophy | | ISO | RGD:13466539 | 9068941 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy, X-linked | ClinVar | PMID:23395478, PMID:28492532 | Emery-Dreifuss muscular dystrophy | | ISO | RGD:40906239 | 9068941 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar | | Emery-Dreifuss muscular dystrophy | | ISO | RGD:11350540 | 9068941 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy, X-linked | ClinVar | PMID:17620497 more ... | familial hypertrophic cardiomyopathy | | ISO | RGD:11039950 | 9068941 | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy | ClinVar | PMID:28492532 | myopathy | | ISO | RGD:13612007 | 9068941 | ClinVar Annotator: match by term: Myopathy | ClinVar | PMID:25741868 | neuromuscular disease | | ISO | RGD:9690602 | 9068941 | ClinVar Annotator: match by term: Neuromuscular Diseases | ClinVar | PMID:18646565 more ... | neuromuscular disease | | ISO | RGD:9691626 | 9068941 | ClinVar Annotator: match by term: Neuromuscular disease | ClinVar | PMID:10382909 more ... | periventricular nodular heterotopia | | ISO | RGD:14709196 | 9068941 | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 | ClinVar | PMID:18854860, PMID:28492532 | periventricular nodular heterotopia | | ISO | RGD:126735669 | 9068941 | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 | ClinVar | PMID:28492532 | periventricular nodular heterotopia | | ISO | RGD:13802046 | 9068941 | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 | ClinVar | PMID:28492532 | periventricular nodular heterotopia | | ISO | RGD:14711093 | 9068941 | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 | ClinVar | PMID:28492532 | periventricular nodular heterotopia | | ISO | RGD:13802049 | 9068941 | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 | ClinVar | PMID:28492532 | periventricular nodular heterotopia | | ISO | RGD:26890431 | 9068941 | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 | ClinVar | PMID:17546640 more ... | severe congenital encephalopathy due to MECP2 mutation | | ISO | RGD:13617057 | 9068941 | ClinVar Annotator: match by term: Encephalopathy more ... | ClinVar | PMID:15351775 more ... | |