Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | cerebellar ataxia | | ISO | MT-CO3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebellar ataxia | ClinVar | PMID:10590437 more ... | cone-rod dystrophy | | ISO | MT-CO3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rod-cone dystrophy | ClinVar | PMID:10590437 more ... | cytochrome-c oxidase deficiency disease | | ISO | MT-CO3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11063732 more ... | dilated cardiomyopathy | | ISO | MT-CO3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar | PMID:24088041 and PMID:26633545 | epilepsy | | ISO | MT-CO3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epilepsy | ClinVar | PMID:28027978 | Hypertelorism | | ISO | MT-CO3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertelorism | ClinVar | PMID:10590437 more ... | Kearns-Sayre syndrome | | ISO | MT-CO3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kearns-Sayre syndrome | ClinVar | PMID:20301382 | lactic acidosis | | ISO | MT-CO3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizures and lactic acidosis | ClinVar | PMID:12915481 and PMID:8739943 | Leber congenital amaurosis | | ISO | MT-CO3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber's disease | ClinVar | PMID:10590437 more ... | Leber hereditary optic neuropathy | | ISO | MT-CO3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10590437 more ... | Leigh disease | | ISO | MT-CO3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10590437 more ... | MELAS syndrome | | ISO | MT-CO3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Juvenile myopathy more ... | ClinVar | PMID:15823923 more ... | mitochondrial complex IV deficiency nuclear type 1 | | ISO | MT-CO3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY and NUCLEAR TYPE 1 | ClinVar | PMID:12414820 more ... | mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 | | ISO | MT-CO3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex v (atp synthase) deficiency and mitochondrial type 1 | ClinVar | PMID:10590437 more ... | mitochondrial metabolism disease | | ISO | MT-CO3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10590437 more ... | Mitochondrial Myopathy, Infantile, Transient | | ISO | MT-CO3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial myopathy more ... | ClinVar | PMID:12414820 | NARP syndrome | | ISO | MT-CO3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NARP syndrome | ClinVar | PMID:10590437 more ... | nephrolithiasis | | ISO | MT-CO3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nephrolithiasis | ClinVar | PMID:25741868 | Pearson syndrome | | ISO | MT-CO3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pearson syndrome | ClinVar | | Premature Birth | | ISO | MT-CO3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Premature birth | ClinVar | PMID:10590437 more ... | Subacute Necrotizing Encephalopathy of Leigh, Infantile | | ISO | MT-CO3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar | PMID:10590437 more ... | tetralogy of Fallot | | ISO | MT-CO3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tetralogy of Fallot | ClinVar | | Venous Thromboembolism | | ISO | MT-CO3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Venous thromboembolism | ClinVar | | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
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