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 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
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 CausalMutation CLINVAR Mutations S305R and P1073L in the POLG gene have been reported to be associated with early childhood Alpers syndrome. 25914719 2015