Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Apical Hypertrophic Cardiomyopathy and Neuropathy | | ISO | MT-ATP8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cardiomyopathy more ... | ClinVar | PMID:21686774 | bicuspid aortic valve disease | | ISO | MT-ATP8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bicuspid aortic valve | ClinVar | | cerebellar ataxia | | ISO | MT-ATP8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebellar ataxia | ClinVar | PMID:10590437 more ... | cone-rod dystrophy | | ISO | MT-ATP8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rod-cone dystrophy | ClinVar | PMID:10590437 more ... | dilated cardiomyopathy | | ISO | MT-ATP8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar | PMID:24088041 and PMID:26633545 | Drug-Related Side Effects and Adverse Reactions | | ISO | MT-ATP8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brain pseudoatrophy more ... | ClinVar | PMID:17101920 and PMID:9243242 | Hypertelorism | | ISO | MT-ATP8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertelorism | ClinVar | PMID:10590437 more ... | infantile histiocytoid cardiomyopathy | | ISO | MT-ATP8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Foamy myocardial transformation of infancy | ClinVar | PMID:19188198 and PMID:26803244 | infantile hypertrophic cardiomyopathy | | ISO | MT-ATP8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cardiomyopathy and infantile hypertrophic | ClinVar | PMID:19188198 and PMID:26803244 | Kearns-Sayre syndrome | | ISO | MT-ATP8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kearns-Sayre syndrome | ClinVar | PMID:20301382 | Leber congenital amaurosis | | ISO | MT-ATP8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber's disease | ClinVar | PMID:10590437 more ... | Leber hereditary optic neuropathy | | ISO | MT-ATP8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber's optic atrophy | ClinVar | PMID:10590437 more ... | Leigh disease | | ISO | MT-ATP8 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10590437 more ... | mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 | | ISO | MT-ATP8 (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-ATP8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial disease | ClinVar | PMID:10590437 more ... | NARP syndrome | | ISO | MT-ATP8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NARP syndrome | ClinVar | PMID:10590437 more ... | optic nerve disease | | ISO | MT-ATP8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Optic neuropathy | ClinVar | PMID:28027978 | Pearson syndrome | | ISO | MT-ATP8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pearson syndrome | ClinVar | | Premature Birth | | ISO | MT-ATP8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Premature birth | ClinVar | PMID:10590437 more ... | Subacute Necrotizing Encephalopathy of Leigh, Infantile | | ISO | MT-ATP8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar | PMID:10590437 more ... | |