NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.Hoefs S.J., van Spronsen F.J., Lenssen E.W., Nijtmans L.G., Rodenburg R.J., Smeitink J.A., van den Heuvel L.P.View abstractCited forINVOLVEMENT IN MC1DN22, VARIANT MC1DN22 ARG-142CategoriesSequences, Disease & VariantsSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCEur. J. Hum. Genet. 19:270-274 (2011)Cited in1
A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies.Kohda M., Tokuzawa Y., Kishita Y., Nyuzuki H., Moriyama Y., Mizuno Y., Hirata T., Yatsuka Y., Yamashita-Sugahara Y.[...], Okazaki Y.View abstractCited forINVOLVEMENT IN MC1DN22, VARIANT MC1DN22 PRO-294CategoriesSequences, Disease & VariantsSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCPLoS Genet. 12:E1005679-E1005679 (2016)Cited in18
Association study between single-nucleotide polymorphisms in 199 drug- related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.Saito A., Kawamoto M., Kamatani N.View abstractAnnotationObservational study of gene-disease association. (HuGE Navigator)CategoriesSequences, Disease & VariantsSourceGeneRif: 4705PubMedEurope PMCJ Hum Genet 54:317-323 (2009)Mapped to99+
Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.Starr J.M., Shiels P.G., Harris S.E., Pattie A., Pearce M.S., Relton C.L., Deary I.J.View abstractAnnotationNot Associated with AGING: Aging/ Telomere Length., Observational study of gene-disease association. (HuGE Navigator)CategoriesDisease & Variants, FunctionSourceGAD:592552, GeneRif: 4705PubMedEurope PMCMech Ageing Dev 129:745-751 (2008)Mapped to99+
A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.Harris S.E., Fox H., Wright A.F., Hayward C., Starr J.M., Whalley L.J., Deary I.J.View abstractAnnotationNot Associated with NEUROLOGICAL: cognitive trait., Observational study of gene-disease association. (HuGE Navigator)CategoriesDisease & Variants, Function, Sequences, Disease & VariantsSourceGAD:592553, GeneRif: 4705PubMedEurope PMCBMC Genet 8:43-43 (2007)Mapped to99+