Gene: C12orf65 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		0.020 GeneticVariation disease BEFREE Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome. 25995486 2016
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		0.020 GeneticVariation disease BEFREE We describe 2 siblings with compound heterozygous mutations in the recently identified C12orf65 gene who presented with optic atrophy and mild developmental delays and subsequently developed bilateral, symmetric lesions in the brainstem reminiscent of Leigh syndrome. 24284555 2014