POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: POLG mutation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3888962
Disease: POLG mutation
POLG mutation 		0.030 GeneticVariation disease BEFREE Bio-informatics investigations supported the pathogenicity of the novel POLG mutation that is located in the C-terminal subdomain and might change POLG 3D structure, stability and function. 30395865 2019
CUI: C3888962
Disease: POLG mutation
POLG mutation 		0.030 Biomarker disease BEFREE The specificity and sensitivity of the signs associated with POLG mutations were analysed by comparison between POLG(+/+) and patients without POLG mutation. 25118206 2015
CUI: C3888962
Disease: POLG mutation
POLG mutation 		0.030 GeneticVariation disease BEFREE We confirm that large deletions in the POLG gene are rare events and we highlight the importance of QMPSF in patients with a single heterozygous POLG mutation, particularly in severe infantile phenotypes. 23921535 2014