POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Decreased urinary copper concentration ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606959
rs267606959
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C4073164
Disease:
Decreased urinary copper concentration 		A 0.700 CausalMutation CLINVAR Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. 20883824 2011
dbSNP: rs267606959
rs267606959
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C4073164
Disease:
Decreased urinary copper concentration 		A 0.700 CausalMutation CLINVAR A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. 20142534 2010