Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Acute Liver Failure | | ISO | POLG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acute hepatic failure | ClinVar | PMID:25741868 more ... | autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 | | ISO | POLG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions and autosomal dominant 4 | ClinVar | PMID:16685652 more ... | chronic progressive external ophthalmoplegia | | ISO | POLG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions | ClinVar | PMID:21555342 more ... | genetic disease | | ISO | POLG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | hereditary spastic paraplegia | | ISO | POLG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar | PMID:21555342 more ... | hyperkalemic periodic paralysis | | ISO | POLG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyperkalemic periodic paralysis | ClinVar | PMID:28492532 | mitochondrial DNA depletion syndrome 16 | | ISO | POLG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 16 (hepatic type) | ClinVar | PMID:25741868 and PMID:28492532 | mitochondrial DNA depletion syndrome 16B | | ISO | POLG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) | ClinVar | PMID:25741868 more ... | vitamin D-dependent rickets type 1A | | ISO | POLG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: VITAMIN D DEPENDENCY and TYPE 1 | ClinVar | PMID:25741868 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
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