POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Decreased urinary copper concentration ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4073164
Disease: Decreased urinary copper concentration
Decreased urinary copper concentration 		0.100 CausalMutation phenotype CLINVAR Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. 20883824 2011
CUI: C4073164
Disease: Decreased urinary copper concentration
Decreased urinary copper concentration 		0.100 CausalMutation phenotype CLINVAR A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. 20142534 2010