Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | cerebellar ataxia | | ISO | MT-ND2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebellar ataxia | ClinVar | PMID:10590437 more ... | cone-rod dystrophy | | ISO | MT-ND2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rod-cone dystrophy | ClinVar | PMID:10590437 more ... | epilepsy | | ISO | MT-ND2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epilepsy | ClinVar | PMID:28027978 | Hypertelorism | | ISO | MT-ND2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertelorism | ClinVar | PMID:10590437 more ... | Leber congenital amaurosis | | ISO | MT-ND2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber's disease | ClinVar | PMID:10590437 more ... | Leber hereditary optic neuropathy | | ISO | MT-ND2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10590437 more ... | Leigh disease | | ISO | MT-ND2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11479733 more ... | Leigh disease | | ISO | MT-ND2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10590437 more ... | Leigh Syndrome Due To Mitochondrial Complex I Deficiency | | ISO | MT-ND2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex I deficiency | ClinVar | PMID:16738010 | mitochondrial complex I deficiency | | ISO | MT-ND2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar | PMID:12192017 more ... | mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 | | ISO | MT-ND2 (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-ND2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial disease | ClinVar | PMID:10590437 more ... | Mitochondrial Myopathy, Infantile, Transient | | ISO | MT-ND2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial myopathy more ... | ClinVar | | NARP syndrome | | ISO | MT-ND2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NARP syndrome | ClinVar | PMID:10590437 more ... | Premature Birth | | ISO | MT-ND2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Premature birth | ClinVar | PMID:10590437 more ... | Subacute Necrotizing Encephalopathy of Leigh, Infantile | | ISO | MT-ND2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar | PMID:10590437 more ... | |