POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Encephalopathies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918046
rs121918046
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0085584
Disease:
Encephalopathies 		0.010 GeneticVariation BEFREE Homozygous R627W mutations in POLG cause mitochondrial DNA depletion leading to encephalopathy, seizures and stroke-like episodes. 31425757 2019