Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | cerebellar ataxia | | ISO | MT-ND4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebellar ataxia | ClinVar | PMID:10590437 more ... | cone-rod dystrophy | | ISO | MT-ND4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rod-cone dystrophy | ClinVar | PMID:10590437 more ... | Developmental Disabilities | | ISO | MT-ND4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental delay | ClinVar | PMID:28027978 | dilated cardiomyopathy | | ISO | MT-ND4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:24088041 and PMID:26633545 | dystonia | | ISO | MT-ND4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dystonic disorder | ClinVar | PMID:28027978 | epilepsy | | ISO | MT-ND4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28027978 | Hearing Loss | | ISO | MT-ND4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hearing impairment | ClinVar | PMID:28027978 | high grade glioma | | ISO | MT-ND4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ependymoma | ClinVar | | Hypertelorism | | ISO | MT-ND4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertelorism | ClinVar | PMID:10590437 more ... | Kearns-Sayre syndrome | | ISO | MT-ND4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kearns-Sayre syndrome | ClinVar | PMID:20301382 | Leber congenital amaurosis | | ISO | MT-ND4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber's disease | ClinVar | PMID:10590437 more ... | Leber hereditary optic neuropathy | | ISO | MT-ND4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10590437 more ... | Leber Optic Atrophy, Susceptibility To | | ISO | MT-ND4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber optic atrophy and susceptibility to | ClinVar | PMID:10976107 more ... | Leigh disease | | ISO | MT-ND4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10590437 more ... | MELAS syndrome | | ISO | MT-ND4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Juvenile myopathy more ... | ClinVar | PMID:1323207 more ... | mitochondrial complex I deficiency | | ISO | MT-ND4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar | PMID:12707444 more ... | mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 | | ISO | MT-ND4 (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-ND4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial disease | ClinVar | PMID:10590437 more ... | NARP syndrome | | ISO | MT-ND4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NARP syndrome | ClinVar | PMID:10590437 more ... | Pearson syndrome | | ISO | MT-ND4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pearson syndrome | ClinVar | PMID:32906214 and PMID:33633954 | Premature Birth | | ISO | MT-ND4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Premature birth | ClinVar | PMID:10590437 more ... | Subacute Necrotizing Encephalopathy of Leigh, Infantile | | ISO | MT-ND4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar | PMID:10590437 more ... | Venous Thromboembolism | | ISO | MT-ND4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Venous thromboembolism | ClinVar | | Vision Disorders | | ISO | MT-ND4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Visual impairment | ClinVar | PMID:25741868 | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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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