ATP6, ATP synthase F0 subunit 6, 4508

N. diseases: 226; N. variants: 80
Disease: Osteosarcoma of bone ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 GeneticVariation disease BEFREE These data demonstrated that mtDNA mutations within the ATPase6 gene are a frequent event in Chinese patients with osteosarcoma. 22542792 2013
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 GeneticVariation disease BEFREE In order to identify genes whose expression is altered as a result of the presence of mtDNA mutations, DNA microarray analysis was performed using human 143B osteosarcoma cells harboring 3243A>G [tRNA-Leu (UUR)] and 8993T>G [ATPase6 Leu156Arg] mtDNA mutations associated with MELAS and NARP syndromes (2SD and NARP3-1 cybrid cells), respectively. 17276738 2007