POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: 3-Methylglutaconic Aciduria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		0.110 GeneticVariation disease BEFREE There are limited reports of POLG mutations in individuals with 3-methylglutaconic aciduria. 22405928 2012
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		0.110 Biomarker disease HPO