rs113994096, POLG

N. diseases: 8
Disease: Leukoencephalopathy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Leukoencephalopathy
CUI: C0270612
Disease: Leukoencephalopathy
0.010 GeneticVariation BEFREE We report a recessive family with features of MNGIE but no leukoencephalopathy in which two patients carry three missense mutations in POLG, of which two are novel mutations (N846S and P587L). 12825077 2003