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Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | MT-CO1 | Human | aminoglycoside-induced deafness | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY | ClinVar | PMID:10577941 more ... | MT-CO1 | Human | cerebellar ataxia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebellar ataxia | ClinVar | PMID:10590437 more ... | MT-CO1 | Human | colorectal cancer | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar | PMID:13298683 and PMID:9806551 | MT-CO1 | Human | colorectal cancer | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar | PMID:16407113 and PMID:19218458 | MT-CO1 | Human | cone-rod dystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rod-cone dystrophy | ClinVar | PMID:10590437 more ... | MT-CO1 | Human | cytochrome-c oxidase deficiency disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease | ClinVar | PMID:10441567 | MT-CO1 | Human | cytochrome-c oxidase deficiency disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cytochrome c oxidase I deficiency | ClinVar | PMID:16284789 | MT-CO1 | Human | cytochrome-c oxidase deficiency disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cytochrome c oxidase I deficiency | ClinVar | PMID:12140182 | MT-CO1 | Human | dilated cardiomyopathy | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar | PMID:24088041 and PMID:26633545 | MT-CO1 | Human | Hypertelorism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertelorism | ClinVar | PMID:10590437 more ... | MT-CO1 | Human | Leber congenital amaurosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber's disease | ClinVar | PMID:10577941 more ... | MT-CO1 | Human | Leber congenital amaurosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber's disease | ClinVar | PMID:10590437 more ... | MT-CO1 | Human | Leber hereditary optic neuropathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber's optic atrophy | ClinVar | PMID:10577941 more ... | MT-CO1 | Human | Leber hereditary optic neuropathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber optic atrophy | ClinVar | PMID:15466014 more ... | MT-CO1 | Human | Leber hereditary optic neuropathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber's optic atrophy | ClinVar | PMID:10590437 more ... | MT-CO1 | Human | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:22130971 more ... | MT-CO1 | Human | Leigh disease | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:25741868 | MT-CO1 | Human | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:15466014 more ... | MT-CO1 | Human | Leigh disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | | MT-CO1 | Human | Leigh disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | | MT-CO1 | Human | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy | ClinVar | PMID:10590437 more ... | MT-CO1 | Human | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:11349229 more ... | MT-CO1 | Human | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:25741868 and PMID:26467025 | MT-CO1 | Human | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:13298683 and PMID:9806551 | MT-CO1 | Human | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:12140182 | MT-CO1 | Human | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:9832034 | MT-CO1 | Human | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:15647368 | MT-CO1 | Human | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:19460299 | MT-CO1 | Human | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:25701779 | MT-CO1 | Human | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy | ClinVar | PMID:10577941 more ... | MT-CO1 | Human | MELAS syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MELAS syndrome | ClinVar | PMID:15466014 more ... | MT-CO1 | Human | MELAS syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MELAS syndrome | ClinVar | PMID:19568996 | MT-CO1 | Human | MELAS syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes | ClinVar | PMID:11069477 more ... | MT-CO1 | Human | mitochondrial complex IV deficiency nuclear type 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency and nuclear type 1 | ClinVar | PMID:9832034 | MT-CO1 | Human | mitochondrial complex IV deficiency nuclear type 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency and nuclear type 1 | ClinVar | PMID:10441567 and PMID:32906214 | MT-CO1 | Human | mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex v (atp synthase) deficiency and mitochondrial type 1 | ClinVar | PMID:10590437 more ... | MT-CO1 | Human | mitochondrial metabolism disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial disease | ClinVar | PMID:22130971 more ... | MT-CO1 | Human | mitochondrial metabolism disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Mitochondrial disease | ClinVar | | MT-CO1 | Human | mitochondrial metabolism disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial disease | ClinVar | PMID:10980727 and PMID:32906214 | MT-CO1 | Human | mitochondrial metabolism disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial disease | ClinVar | PMID:9832034 | MT-CO1 | Human | mitochondrial metabolism disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial disease | ClinVar | PMID:10590437 more ... | MT-CO1 | Human | mitochondrial metabolism disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial disease | ClinVar | PMID:10441567 and PMID:32906214 | MT-CO1 | Human | mitochondrial metabolism disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial disorder | ClinVar | PMID:32906214 and PMID:9389715 | MT-CO1 | Human | mitochondrial metabolism disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial disorder | ClinVar | PMID:11069477 more ... | MT-CO1 | Human | mitochondrial metabolism disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial disorder | ClinVar | PMID:9389715 | MT-CO1 | Human | mitochondrial metabolism disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial disorder | ClinVar | PMID:10577941 more ... | MT-CO1 | Human | Mitochondrial Myopathy, Infantile, Transient | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial myopathy more ... | ClinVar | | MT-CO1 | Human | mitochondrial nonsyndromic sensorineural deafness | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deafness more ... | ClinVar | PMID:10577941 more ... | MT-CO1 | Human | mitochondrial nonsyndromic sensorineural deafness | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deafness more ... | ClinVar | PMID:10577941 more ... | MT-CO1 | Human | mitochondrial nonsyndromic sensorineural deafness | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deafness more ... | ClinVar | PMID:11069477 more ... | MT-CO1 | Human | mitochondrial nonsyndromic sensorineural deafness | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deafness more ... | ClinVar | PMID:20301595 | MT-CO1 | Human | NARP syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NARP syndrome | ClinVar | PMID:10590437 more ... | MT-CO1 | Human | ophthalmoplegia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: External ophthalmoplegia | ClinVar | | MT-CO1 | Human | optic atrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Optic atrophy | ClinVar | PMID:28027978 | MT-CO1 | Human | palmoplantar keratoderma-deafness syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome | ClinVar | PMID:11069477 more ... | MT-CO1 | Human | Premature Birth | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Premature birth | ClinVar | PMID:10590437 more ... | MT-CO1 | Human | Recurrent Myoglobinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myoglobinuria and recurrent | ClinVar | PMID:10980727 and PMID:32906214 | MT-CO1 | Human | sideroblastic anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acquired idiopathic sideroblastic anemia | ClinVar | PMID:9389715 | MT-CO1 | Human | sideroblastic anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acquired idiopathic sideroblastic anemia | ClinVar | PMID:32906214 and PMID:9389715 | MT-CO1 | Human | Subacute Necrotizing Encephalopathy of Leigh, Infantile | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar | PMID:10577941 more ... | MT-CO1 | Human | Subacute Necrotizing Encephalopathy of Leigh, Infantile | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar | PMID:10590437 more ... | MT-CO1 | Human | Subacute Necrotizing Encephalopathy of Leigh, Infantile | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar | | MT-CO1 | Human | tetralogy of Fallot | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Tetralogy of Fallot | ClinVar | | |