rs267606959, POLG

N. diseases: 19
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)
0.710 CausalMutation CLINVAR Mutations S305R and P1073L in the POLG gene have been reported to be associated with early childhood Alpers syndrome. 25914719 2015
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
0.710 CausalMutation CLINVAR Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. 20883824 2011
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
0.710 CausalMutation CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868 2011
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
0.710 GeneticVariation BEFREE The heterozygous presence of the novel p.P1073L mutation in trans with another recessive POLG mutation causes a hepatocerebral disorder identical or very similar to Alpers syndrome. 20142534 2010
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
0.710 CausalMutation CLINVAR The heterozygous presence of the novel p.P1073L mutation in trans with another recessive POLG mutation causes a hepatocerebral disorder identical or very similar to Alpers syndrome. 20142534 2010