Disease: Leigh Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122972
rs398122972
Entrez Id: 8099;91574
Gene Symbol: CDK2AP1;C12orf65
CDK2AP1;C12orf65
CUI: C0023264
Disease:
Leigh Disease 		0.010 GeneticVariation BEFREE Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome. 25995486 2016