rs113994096, POLG

N. diseases: 8
Disease: Alpers Syndrome (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
0.800 GeneticVariation UNIPROT Mitochondrial DNA depletion syndrome causing liver failure. 25129007 2014
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
0.800 CausalMutation CLINVAR Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure. 23783014 2013
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
0.800 CausalMutation CLINVAR The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders. 23665194 2013
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
0.800 CausalMutation CLINVAR Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations. 20513108 2010
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
0.800 GeneticVariation UNIPROT Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. 18828154 2009
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
0.800 GeneticVariation UNIPROT Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917 2006
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
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
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
0.800 GeneticVariation UNIPROT POLG mutations and Alpers syndrome. 15929042 2005
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
0.800 GeneticVariation UNIPROT Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. 15689359 2005
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
0.800 CausalMutation CLINVAR Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene. 15349879 2004
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
0.800 GeneticVariation UNIPROT POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 15122711 2004
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
0.800 CausalMutation CLINVAR Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. 12825077 2003