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: rs199759055
rs199759055
Entrez Id: 5428;102466983
Gene Symbol: POLG;MIR6766
POLG;MIR6766
CUI: C0205710
Disease:
Alpers Syndrome (disorder) 		A 0.700 CausalMutation CLINVAR Isolated distal myopathy of the upper limbs associated with mitochondrial DNA depletion and polymerase gamma mutations. 20837862 2010