POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994095
rs113994095
Entrez Id: 5428;102466983
Gene Symbol: POLG;MIR6766
POLG;MIR6766
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		T 0.810 CausalMutation CLINVAR
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121918046
rs121918046
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121918048
rs121918048
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121918049
rs121918049
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		G 0.800 CausalMutation CLINVAR
dbSNP: rs113994098
rs113994098
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918044
rs121918044
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		C 0.700 CausalMutation CLINVAR
dbSNP: rs121918054
rs121918054
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs144500145
rs144500145
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		A 0.700 CausalMutation CLINVAR
dbSNP: rs201732356
rs201732356
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs375305567
rs375305567
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.700 GeneticVariation UNIPROT
dbSNP: rs113994095
rs113994095
Entrez Id: 5428;102466983
Gene Symbol: POLG;MIR6766
POLG;MIR6766
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.810 GeneticVariation BEFREE Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation. 19813183 2010
dbSNP: rs113994095
rs113994095
Entrez Id: 5428;102466983
Gene Symbol: POLG;MIR6766
POLG;MIR6766
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.810 GeneticVariation UNIPROT Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347 2005
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 GeneticVariation UNIPROT Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347 2005
dbSNP: rs121918046
rs121918046
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 GeneticVariation UNIPROT Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347 2005
dbSNP: rs121918048
rs121918048
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 GeneticVariation UNIPROT Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347 2005
dbSNP: rs121918049
rs121918049
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 GeneticVariation UNIPROT Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347 2005
dbSNP: rs121918052
rs121918052
Entrez Id: 5428;102466983
Gene Symbol: POLG;MIR6766
POLG;MIR6766
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.700 GeneticVariation UNIPROT Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347 2005
dbSNP: rs61752783
rs61752783
Entrez Id: 5428;102466983
Gene Symbol: POLG;MIR6766
POLG;MIR6766
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.700 GeneticVariation UNIPROT Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347 2005
dbSNP: rs769827124
rs769827124
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.700 GeneticVariation UNIPROT Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347 2005
dbSNP: rs113994095
rs113994095
Entrez Id: 5428;102466983
Gene Symbol: POLG;MIR6766
POLG;MIR6766
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.810 GeneticVariation UNIPROT Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. 15917273 2005
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 GeneticVariation UNIPROT Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. 15917273 2005
dbSNP: rs121918046
rs121918046
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 GeneticVariation UNIPROT Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. 15917273 2005
dbSNP: rs121918048
rs121918048
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 GeneticVariation UNIPROT Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. 15917273 2005
dbSNP: rs121918049
rs121918049
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 GeneticVariation UNIPROT Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. 15917273 2005