POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0858618
Disease: Dyschromatopsia
Dyschromatopsia
0.110 GeneticVariation disease BEFREE Early-onset dyschromatopsia and optic atrophy can occur not only in OPA1-related but also in POLG-related disorders with significant impact on genetic counseling. 21670405 2011
CUI: C0858618
Disease: Dyschromatopsia
Dyschromatopsia
0.110 Biomarker disease HPO