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: rs113994094
rs113994094
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.800 GeneticVariation UNIPROT Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations. 19307547 2009
dbSNP: rs113994096
rs113994096
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.800 GeneticVariation UNIPROT Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations. 19307547 2009
dbSNP: rs113994098
rs113994098
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.800 GeneticVariation UNIPROT Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations. 19307547 2009
dbSNP: rs121918050
rs121918050
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.800 GeneticVariation UNIPROT Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations. 19307547 2009
dbSNP: rs121918056
rs121918056
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.800 GeneticVariation UNIPROT Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations. 19307547 2009
dbSNP: rs113994094
rs113994094
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.800 GeneticVariation UNIPROT Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. 12825077 2003
dbSNP: rs113994096
rs113994096
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.800 GeneticVariation UNIPROT Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. 12825077 2003
dbSNP: rs113994098
rs113994098
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.800 GeneticVariation UNIPROT Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. 12825077 2003
dbSNP: rs121918050
rs121918050
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.800 GeneticVariation UNIPROT Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. 12825077 2003
dbSNP: rs121918056
rs121918056
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.800 GeneticVariation UNIPROT Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. 12825077 2003
dbSNP: rs113994094
rs113994094
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs113994096
rs113994096
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs113994098
rs113994098
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121918050
rs121918050
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121918056
rs121918056
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		A 0.800 CausalMutation CLINVAR
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: rs113994095
rs113994095
Entrez Id: 5428;102466983
Gene Symbol: POLG;MIR6766
POLG;MIR6766
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918044
rs121918044
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		C 0.700 CausalMutation CLINVAR
dbSNP: rs121918054
rs121918054
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs121918054
rs121918054
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		G 0.700 CausalMutation CLINVAR
dbSNP: rs138929605
rs138929605
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs139590686
rs139590686
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		G 0.700 CausalMutation CLINVAR
dbSNP: rs144500145
rs144500145
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		A 0.700 CausalMutation CLINVAR