POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Alpers Syndrome (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1567192879
rs1567192879
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease:
Alpers Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations. 16957900 2007