Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | cerebellar ataxia | | ISO | MT-ND3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebellar ataxia | ClinVar | PMID:10590437 more ... | cone-rod dystrophy | | ISO | MT-ND3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rod-cone dystrophy | ClinVar | PMID:10590437 more ... | dilated cardiomyopathy | | ISO | MT-ND3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar | PMID:24088041 and PMID:26633545 | Hypertelorism | | ISO | MT-ND3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertelorism | ClinVar | PMID:10590437 more ... | Kearns-Sayre syndrome | | ISO | MT-ND3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kearns-Sayre syndrome | ClinVar | PMID:20301382 | Leber congenital amaurosis | | ISO | MT-ND3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber's disease | ClinVar | PMID:10590437 more ... | Leber hereditary optic neuropathy | | ISO | MT-ND3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10590437 more ... | Leber hereditary optic neuropathy and dystonia | | ISO | MT-ND3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dystonia familial and with visual failure and striatal lucencies | ClinVar | PMID:17152068 more ... | Leigh disease | | ISO | MT-ND3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10590437 more ... | mitochondrial complex I deficiency | | ISO | MT-ND3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar | PMID:11456298 more ... | mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 | | ISO | MT-ND3 (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-ND3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial disease | ClinVar | PMID:10590437 more ... | mitochondrial type mitochondrial complex I deficiency 1 | | ISO | MT-ND3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY and MITOCHONDRIAL TYPE 1 | ClinVar | PMID:11456298 more ... | NARP syndrome | | ISO | MT-ND3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NARP syndrome | ClinVar | PMID:10590437 more ... | Parkinson's disease | | ISO | MT-ND3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Parkinson disease and resistance to | ClinVar | PMID:17066297 and PMID:6343397 | Pearson syndrome | | ISO | MT-ND3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pearson syndrome | ClinVar | | Premature Birth | | ISO | MT-ND3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Premature birth | ClinVar | PMID:10590437 more ... | Subacute Necrotizing Encephalopathy of Leigh, Infantile | | ISO | MT-ND3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar | PMID:10590437 more ... | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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