Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Alzheimer's disease | | ISO | MT-ND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alzheimer disease | ClinVar | PMID:15972314 and PMID:8104867 | aminoglycoside-induced deafness | | ISO | MT-ND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY | ClinVar | PMID:10521300 more ... | autosomal-mitochondrial sensorineural deafness | | ISO | MT-ND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deafness more ... | ClinVar | PMID:10521300 more ... | cerebellar ataxia | | ISO | MT-ND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebellar ataxia | ClinVar | PMID:10590437 more ... | colon carcinoma | | ISO | MT-ND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Carcinoma of colon | ClinVar | PMID:10519336 more ... | cone-rod dystrophy | | ISO | MT-ND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rod-cone dystrophy | ClinVar | PMID:10590437 more ... | Developmental Disabilities | | ISO | MT-ND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:28027978 | dystonia | | ISO | MT-ND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dystonia and adult-onset | ClinVar | PMID:11938495 more ... | Hypertelorism | | ISO | MT-ND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertelorism | ClinVar | PMID:10590437 more ... | late onset Parkinson's disease | | ISO | MT-ND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Parkinson disease and late-onset | ClinVar | PMID:15972314 and PMID:8104867 | Leber congenital amaurosis | | ISO | MT-ND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber's disease | ClinVar | PMID:10590437 more ... | Leber hereditary optic neuropathy | | ISO | MT-ND1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10590437 more ... | Leigh disease | | ISO | MT-ND1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10519336 more ... | MELAS syndrome | | ISO | MT-ND1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15466014 more ... | migraine | | ISO | MT-ND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Migraine | ClinVar | PMID:15466014 more ... | mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 | | ISO | MT-ND1 (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-ND1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10521300 more ... | Mitochondrial Myopathy, Infantile, Transient | | ISO | MT-ND1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 | mitochondrial nonsyndromic sensorineural deafness | | ISO | MT-ND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deafness more ... | ClinVar | PMID:10521300 more ... | NARP syndrome | | ISO | MT-ND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NARP syndrome | ClinVar | PMID:10590437 more ... | optic nerve disease | | ISO | MT-ND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Optic nerve disorder | ClinVar | PMID:20301353 and PMID:30143805 | Premature Birth | | ISO | MT-ND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Premature birth | ClinVar | PMID:10590437 more ... | ptosis | | ISO | MT-ND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ptosis | ClinVar | PMID:25741868 | restrictive cardiomyopathy | | ISO | MT-ND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Restrictive cardiomyopathy | ClinVar | PMID:10521300 more ... | Subacute Necrotizing Encephalopathy of Leigh, Infantile | | ISO | MT-ND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar | PMID:10590437 more ... | sudden infant death syndrome | | ISO | MT-ND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME | ClinVar | PMID:10519336 more ... | |