Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Alpers-Huttenlocher syndrome | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:26968897 more ... | Alpers-Huttenlocher syndrome | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:26557169 more ... | Alpers-Huttenlocher syndrome | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11301032 more ... | Alpers-Huttenlocher syndrome | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:27111573 more ... | Alpers-Huttenlocher syndrome | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11301032 more ... | Alpers-Huttenlocher syndrome | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:27538604 more ... | Alpers-Huttenlocher syndrome | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11301032 more ... | Alpers-Huttenlocher syndrome | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11301032 more ... | autistic disorder | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:18156159 more ... | autistic disorder | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autistic disorder | ClinVar | PMID:18156159 more ... | autosomal dominant progressive external ophthalmoplegia 1 | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11431686 more ... | autosomal dominant progressive external ophthalmoplegia 1 | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:33469851 more ... | autosomal recessive progressive external ophthalmoplegia 1 | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11431686 more ... | benign neonatal seizures | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: neonatal seizures | ClinVar | PMID:14635118 more ... | Bloom syndrome | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bloom syndrome | ClinVar | PMID:28492532 | Camptocormia | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bent Spine Syndrome | ClinVar | PMID:16621917 more ... | CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia | ClinVar | PMID:11431686 more ... | Charcot-Marie-Tooth disease axonal type 2U | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE more ... | ClinVar | PMID:14557557 more ... | Childhood Myocerebrohepatopathy Spectrum | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Childhood myocerebrohepatopathy spectrum | ClinVar | PMID:12707443 more ... | colorectal cancer | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar | PMID:28492532 | D-2-hydroxyglutaric aciduria 2 | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 | ClinVar | PMID:28492532 | Developmental Disabilities | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:11555352 more ... | epilepsy | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:15181170 more ... | epilepsy | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:15181170 more ... | epilepsy | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:34008892 more ... | epilepsy | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11431686 more ... | epilepsy | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11431686 more ... | epilepsy | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:35307828 more ... | epilepsy | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11431686 more ... | epilepsy | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:7847370 | epilepsy | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11431686 more ... | Fanconi anemia | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15477547 more ... | Fanconi anemia complementation group I | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fanconi anemia complementation group I | ClinVar | PMID:18414213 more ... | genetic disease | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11431686 more ... | genetic disease | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:29574624 more ... | hereditary spastic paraplegia | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar | PMID:11431686 more ... | hereditary spastic paraplegia | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar | PMID:11431686 more ... | hereditary spastic paraplegia | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar | PMID:11431686 more ... | hereditary spastic paraplegia | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar | PMID:11431686 more ... | hereditary spastic paraplegia | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11431686 more ... | hereditary spastic paraplegia | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11431686 more ... | hypertrophic cardiomyopathy | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar | PMID:11555352 more ... | intellectual disability | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:14745080 more ... | intellectual disability | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:14745080 more ... | Lennox-Gastaut syndrome | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type | ClinVar | PMID:15181170 more ... | MELAS syndrome | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17436221 more ... | microcephaly | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | mitochondrial DNA depletion syndrome | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome | ClinVar | PMID:11431686 more ... | mitochondrial DNA depletion syndrome 1 | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11431686 more ... | mitochondrial DNA depletion syndrome 4B | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:31658717 more ... | mitochondrial DNA depletion syndrome 4B | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11431686 more ... | mitochondrial DNA depletion syndrome 7 | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: mitochondrial hepatopathy | ClinVar | PMID:25741868 | mitochondrial DNA depletion syndrome 8A | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11431686 more ... | mitochondrial DNA depletion syndrome 8A | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11431686 more ... | Mitochondrial DNA Depletion Syndrome, MNGIE Type | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11431686 more ... | mitochondrial metabolism disease | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11431686 more ... | Nervous System Malformations | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the nervous system | ClinVar | PMID:11555352 more ... | Parkinson's disease 20 | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Early-onset Parkinson disease 20 | ClinVar | PMID:18414213 more ... | Plagiocephaly | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plagiocephaly | ClinVar | PMID:21550804 more ... | polyneuropathy | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Polyneuropathy | ClinVar | | Primary Ovarian Failure | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary ovarian failure | ClinVar | PMID:14635118 more ... | primary ovarian insufficiency | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Premature ovarian failure | ClinVar | PMID:14635118 more ... | primary progressive multiple sclerosis | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary progressive multiple sclerosis | ClinVar | PMID:16401742 more ... | Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions and digenic | ClinVar | PMID:12210792 more ... | progressive myoclonus epilepsy 5 | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epilepsy more ... | ClinVar | PMID:11431686 more ... | progressive myoclonus epilepsy 5 | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11431686 more ... | progressive myoclonus epilepsy 5 | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:34008892 more ... | sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11431686 more ... | sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11431686 more ... | sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:33600046 more ... | sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11431686 more ... | Spinocerebellar Ataxia with Epilepsy | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spinocerebellar ataxia with epilepsy | ClinVar | PMID:11431686 more ... | Spinocerebellar Ataxias | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spinocerebellar atrophy | ClinVar | PMID:17436221 more ... | Stroke | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Stroke | ClinVar | PMID:11555352 more ... | vascular dementia | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Vascular dementia | ClinVar | PMID:25741868 more ... | visual epilepsy | | ISO | POLG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11431686 more ... | |