Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		0.140 GeneticVariation CLINVAR "Common genetic etiology between ""multiple sclerosis-like"" single-gene disorders and familial multiple sclerosis." 28337550

2017
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		0.140 GeneticVariation CLINVAR Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder. 27987238

2017
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		0.140 GeneticVariation CLINVAR The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replication. 26095671

2015
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		0.140 GeneticVariation CLINVAR Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes. 24508722

2014
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		0.140 GeneticVariation CLINVAR POLG1-related levodopa-responsive parkinsonism. 25203713

2014
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		0.140 GeneticVariation CLINVAR A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations. 22357363

2012
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		0.140 GeneticVariation CLINVAR Antimutator alleles of yeast DNA polymerase gamma modulate the balance between DNA synthesis and excision. 22114710

2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		0.140 GeneticVariation CLINVAR Alpers syndrome with mutations in POLG: clinical and investigative features. 22000311

2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		0.140 GeneticVariation CLINVAR Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism. 21301859

2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		0.140 GeneticVariation CLINVAR Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. 18487244

2008