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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive limb-girdle muscular dystrophy type 2P | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 | ClinVar | PMID:20234391, PMID:28492532 | epilepsy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Seizures | ClinVar | | genetic disease | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:23352163 more ... | genetic disease | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:28492532 | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:22171071, PMID:28492532 | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:12948742 more ... | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:25741868 more ... | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:27362913, PMID:28492532 | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:15272469 more ... | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:25231368 more ... | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:25741868, PMID:31319225 | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:11139253 more ... | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:16450403 more ... | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:26467025, PMID:28492532 | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:10873393 more ... | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:26467025 | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:12948742 more ... | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:27620832, PMID:28492532 | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:26371980 | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:25231368 | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:27620832 | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:15272469 more ... | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:16450403 more ... | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:26179960 | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:23352163 more ... | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:20949620 more ... | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:10873393 more ... | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:10873393 more ... | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:27362913 | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:19299230 more ... | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:26179960 more ... | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by OMIM:605899 | ClinVar | PMID:25741868 | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:16450403 more ... | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:12948742 more ... | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by OMIM:605899 | ClinVar | | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:25741868, PMID:28492532 | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:25741868, PMID:27362913 | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:25231368 more ... | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:16450403 more ... | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by OMIM:605899 | ClinVar | PMID:10873393 | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by OMIM:605899 | ClinVar | PMID:9600239 | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by OMIM:605899 | ClinVar | PMID:8005589 | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by OMIM:605899 | ClinVar | PMID:9621520 | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by OMIM:605899 | ClinVar | PMID:19299230 | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by OMIM:605899 | ClinVar | PMID:24033266 | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by OMIM:605899 | ClinVar | PMID:12948742 | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by OMIM:605899 | ClinVar | PMID:16450403 | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by OMIM:605899 | ClinVar | PMID:16450403, PMID:9621520 | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by OMIM:605899 | ClinVar | PMID:11286506 | glycine encephalopathy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:16450403, PMID:28492532 | visual epilepsy | | ISO | RGD:1343884 | 8554872 | ClinVar Annotator: match by term: Seizures | ClinVar | | |