Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Decreased serum ceruloplasmin
CUI: C0240997
Disease: Decreased serum ceruloplasmin
0.700 CausalMutation CLINVAR Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. 20883824 2011
Decreased serum ceruloplasmin
CUI: C0240997
Disease: Decreased serum ceruloplasmin
0.700 CausalMutation CLINVAR A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. 20142534 2010