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: rs121918046
rs121918046
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 GeneticVariation UNIPROT Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay. 16639411 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: rs121918046
rs121918046
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 GeneticVariation UNIPROT Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917 2006
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: 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: rs121918046
rs121918046
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 GeneticVariation UNIPROT Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. 16080118 2005
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 causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. 14745080 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: 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: rs121918046
rs121918046
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843851
Disease:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		A 0.800 CausalMutation CLINVAR