rs375305567, POLG

N. diseases: 2
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)
0.700 CausalMutation CLINVAR MELAS associated with mutations in the POLG1 gene. 17502560 2007
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
0.700 CausalMutation CLINVAR Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917 2006
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
0.700 CausalMutation CLINVAR Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. 15917273 2005