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 		0.810 GeneticVariation UNIPROT SANDO: two novel mutations in POLG1 gene. 16919951 2006
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 GeneticVariation UNIPROT SANDO: two novel mutations in POLG1 gene. 16919951 2006
dbSNP: rs121918046
rs121918046
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 GeneticVariation UNIPROT SANDO: two novel mutations in POLG1 gene. 16919951 2006
dbSNP: rs121918048
rs121918048
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 GeneticVariation UNIPROT SANDO: two novel mutations in POLG1 gene. 16919951 2006
dbSNP: rs121918049
rs121918049
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 GeneticVariation UNIPROT SANDO: two novel mutations in POLG1 gene. 16919951 2006
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 SANDO: two novel mutations in POLG1 gene. 16919951 2006
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 SANDO: two novel mutations in POLG1 gene. 16919951 2006
dbSNP: rs769827124
rs769827124
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.700 GeneticVariation UNIPROT SANDO: two novel mutations in POLG1 gene. 16919951 2006
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 Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. 12565911 2003
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 GeneticVariation UNIPROT Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. 12565911 2003
dbSNP: rs121918046
rs121918046
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 GeneticVariation UNIPROT Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. 12565911 2003
dbSNP: rs121918048
rs121918048
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 GeneticVariation UNIPROT Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. 12565911 2003
dbSNP: rs121918049
rs121918049
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 GeneticVariation UNIPROT Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. 12565911 2003
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 Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. 12565911 2003
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 Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. 12565911 2003
dbSNP: rs769827124
rs769827124
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.700 GeneticVariation UNIPROT Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. 12565911 2003
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 PRICKLE2 Mutations Might Not Be Involved in Epilepsy. 26942291 2016
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 GeneticVariation UNIPROT PRICKLE2 Mutations Might Not Be Involved in Epilepsy. 26942291 2016
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 PRICKLE2 Mutations Might Not Be Involved in Epilepsy. 26942291 2016
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 POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. 15477547 2004
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 GeneticVariation UNIPROT POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. 15477547 2004
dbSNP: rs121918046
rs121918046
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 GeneticVariation UNIPROT POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. 15477547 2004
dbSNP: rs121918048
rs121918048
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 GeneticVariation UNIPROT POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. 15477547 2004
dbSNP: rs121918049
rs121918049
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 GeneticVariation UNIPROT POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. 15477547 2004
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 POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. 15477547 2004