rs143319805, OPA1

N. diseases: 12
Disease: 3-Methylglutaconic aciduria type 3 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
3-Methylglutaconic aciduria type 3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
0.010 GeneticVariation BEFREE Subsequent screening of whole exomes from >600 index patients identified a second family with severe optic atrophy plus syndrome due to compound heterozygous p.I382M, thus confirming this mechanism. 24970096 2014