Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
0.010 GeneticVariation BEFREE Because of multisystem involvement, mitochondrial disease was suspected and the mutational analysis of the BCS1L gene revealed homozygous P99L mutation. 23892085 2013