Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
0.010 GeneticVariation BEFREE The novel homozygous p.M797I POLG mutation is responsible for MNGIE combined to optic atrophy and mtDNA depletion in the two patients. 30395865 2019
POLG mutation
CUI: C3888962
Disease: POLG mutation
0.010 GeneticVariation BEFREE The novel homozygous p.M797I POLG mutation is responsible for MNGIE combined to optic atrophy and mtDNA depletion in the two patients. 30395865 2019