POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		0.010 GeneticVariation disease BEFREE MTHFR and POLG mutations were consistent with the severe muscle weakness and the metabolic changes, including hyperhomocysteinemia and decreased activity of both N(5,10)methylenetetrahydrofolate reductase (MTHFR) and complexes I and II of the mitochondrial respiratory chain. 31645654 2020
CUI: C1303073
Disease: Nicolaides Baraitser syndrome
Nicolaides Baraitser syndrome 		0.010 Biomarker disease BEFREE Cooccurrence of Two Different Genetic Diseases: A Case of Valproic Acid Hepatotoxicity in Nicolaides-Baraitser Syndrome (SMARCA2 Mutation)-Due to a POLG1-Related Effect? 31541998 2020
CUI: C0011119
Disease: Decompression Sickness
Decompression Sickness 		0.010 Biomarker disease BEFREE All-solid-state lithium-ion batteries fabricated with PI/PEO/LiTFSI solid electrolyte show good cycling performance (200 cycles at C/2 rate) at 60 °C and withstand abuse tests such as bending, cutting and nail penetration. 31133663 2019
CUI: C0013146
Disease: Drug abuse
Drug abuse 		0.010 Biomarker group BEFREE All-solid-state lithium-ion batteries fabricated with PI/PEO/LiTFSI solid electrolyte show good cycling performance (200 cycles at C/2 rate) at 60 °C and withstand abuse tests such as bending, cutting and nail penetration. 31133663 2019
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 Biomarker group BEFREE Whole-exome sequencing as a powerful tool for identifying genetic causes in a patient with POLG-related disorders and phenylketonuria. 30678510 2019
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.010 Biomarker phenotype BEFREE An Investigation of PS-b-PEO Polymersomes for the Oral Treatment and Diagnosis of Hyperammonemia. 31721441 2019
CUI: C0548923
Disease: Burn infection
Burn infection 		0.010 AlteredExpression disease BEFREE Enhanced antibacterial activity of PEO-chitosan nanofibers with potential application in burn infection management. 31173830 2019
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.010 Biomarker disease BEFREE Whole-exome sequencing as a powerful tool for identifying genetic causes in a patient with POLG-related disorders and phenylketonuria. 30678510 2019
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.010 Biomarker disease BEFREE The shift in wavelengths, the change in intensity of FTIR peaks and melting point depression were the evidence of miscibility of HPMC/PEO blends. 29253968 2018
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		0.010 GeneticVariation disease BEFREE Children with POLG mutations can manifest with a wide spectrum of abnormal movements, which are often prominent features of the clinical syndrome. 30167885 2018
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.010 Biomarker disease BEFREE Our report on a subset of unrelated patients, that showed a distinct autosomal recessive childhood-onset neuromyopathy with congenital cataracts and glaucoma, expands the clinical spectrum of POLG-related disorders. 29358615 2018
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.010 GeneticVariation group BEFREE Early onset cataract is otherwise rare in POLG-related disorders and so far reported only in a few patients with the clinical pattern of distal myopathy or neuromyopathy. 29358615 2018
CUI: C0041234
Disease: Chagas Disease
Chagas Disease 		0.010 Biomarker disease BEFREE PARP1 depletion improves mitochondrial and heart function in Chagas disease: Effects on POLG dependent mtDNA maintenance. 29851986 2018
CUI: C0151846
Disease: Periosteal Disorder
Periosteal Disorder 		0.010 Biomarker disease BEFREE During experimental study on 20 mongrel dogs, the implant model in the form of 1.0-mm plate made of titanium alloy (Ti6Al 4V) was placed in the medullary canal (first series) or under the periosteum (second series): the plates had bioactive coating (hydroxyapatite) produced using the technology of magnetron sputtering (six animals), plasma electrolytic oxidation or microarc oxidation technology (PEO; eight animals), and composite technology (six dogs). 30350395 2018
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder 		0.010 Biomarker disease BEFREE Gallic acid loaded PEO-core/zein-shell nanofibers for chemopreventive action on gallbladder cancer cells. 29630938 2018
CUI: C0154208
Disease: Disorder of endocrine ovary
Disorder of endocrine ovary 		0.010 GeneticVariation group BEFREE This study has improved our understanding of POLG-related genetic mutations in ovarian dysfunction, and the mode of inheritance of certain sequence variants. 29992832 2018
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		0.010 Biomarker disease BEFREE Gallic acid loaded PEO-core/zein-shell nanofibers for chemopreventive action on gallbladder cancer cells. 29630938 2018
CUI: C0333307
Disease: Superficial ulcer
Superficial ulcer 		0.010 Biomarker disease BEFREE Increasing the PLGA:PS-<i>b</i>-PEO weight ratio alters the drug release mechanism from chain relaxation to erosion controlled. 29391794 2018
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.010 Biomarker phenotype BEFREE The shift in wavelengths, the change in intensity of FTIR peaks and melting point depression were the evidence of miscibility of HPMC/PEO blends. 29253968 2018
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		0.010 GeneticVariation disease BEFREE It also confirms the association between cataracts and neuropathy with variants in POLG. 29358615 2018
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.010 GeneticVariation group BEFREE Early onset cataract is otherwise rare in POLG-related disorders and so far reported only in a few patients with the clinical pattern of distal myopathy or neuromyopathy. 29358615 2018
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy 		0.010 GeneticVariation disease BEFREE Herein, we have investigated the protein signature of metabolism and of the antioxidant response in muscle biopsies of clinically and genetically diagnosed patients with Progressive External Ophthalmoplegia due to single large-scale (PEO-sD) or multiple (PEO-mD) deletions of mtDNA and Mitochondrial Encephalopathy Lactic Acidosis and Stroke-like episode (MELAS) syndrome, and healthy donors. 30138712 2018
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.010 AlteredExpression disease BEFREE Four short hairpin RNA (shRNA) expression plasmids targeting POLG gene were constructed and transfected into the NPC cell lines CNE-1 and CNE-2. 29763377 2018
CUI: C3887524
Disease: Skin Erosion
Skin Erosion 		0.010 Biomarker disease BEFREE Increasing the PLGA:PS-<i>b</i>-PEO weight ratio alters the drug release mechanism from chain relaxation to erosion controlled. 29391794 2018
CUI: C3888789
Disease: Pancreatic toxicity
Pancreatic toxicity 		0.010 GeneticVariation disease BEFREE We assessed the prevalence of these common variants and seven other pathogenic mutations in POLG1 and determined the occurrence of VPA-induced hepatotoxicity (VHT) or pancreatic toxicity in a cohort of patients with epilepsy. 30255931 2018