Condition: Optic Neuropathy
rs1057516062
in
COX2;ND3;COX3;ATP8;ATP6
gene and
Optic Neuropathy
PMID 28027978
2017 In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes.
rs672601368
in
KIF1A
gene and
Optic Neuropathy
PMID 26486474
2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.