Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.600 GeneticVariation disease UNIPROT POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. 15477547 2004
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.600 GeneticVariation disease UNIPROT Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917 2006
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.600 GeneticVariation disease CLINVAR
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.600 GeneticVariation disease UNIPROT Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). 12707443 2003
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.600 GeneticVariation disease UNIPROT Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle. 12872260 2003
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.600 CausalMutation disease CLINVAR POLG mutation presenting with late-onset jerky torticollis. 23212759 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.600 GeneticVariation disease UNIPROT Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. 16401742 2006
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.600 GeneticVariation disease UNIPROT POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. 14635118 2003
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.600 CausalMutation disease CLINVAR [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia]. 20576279 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.600 GeneticVariation disease UNIPROT Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. 12975295 2003