POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201477273
rs201477273
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		A 0.700 GeneticVariation CLINVAR Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations. 20176107 2010
dbSNP: rs201477273
rs201477273
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		A 0.700 GeneticVariation CLINVAR R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity. 19364868 2009
dbSNP: rs201477273
rs201477273
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		A 0.700 GeneticVariation CLINVAR Novel mutation of human DNA polymerase gamma associated with mitochondrial toxicity induced by anti-HIV treatment. 17436221 2007
dbSNP: rs201477273
rs201477273
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		A 0.700 CausalMutation CLINVAR