Optic Atrophy, Hereditary, Leber Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Similar Terms
Downloads & Tools

Genes

31 genes associated with the Optic Atrophy, Hereditary, Leber phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
CEP290 centrosomal protein 290kDa
COX3
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
CYBA cytochrome b-245, alpha polypeptide
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
FAS Fas cell surface death receptor
GSTM1 glutathione S-transferase mu 1
GSTT1 glutathione S-transferase theta 1
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
MAPT microtubule-associated protein tau
MT-ATP6 ATP synthase F0 subunit 6
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TS1 tRNA
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
ND1
NOS3 nitric oxide synthase 3 (endothelial cell)
NQO1 NAD(P)H dehydrogenase, quinone 1
OPA1 optic atrophy 1 (autosomal dominant)
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OPTN optineurin
PARL presenilin associated, rhomboid-like
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RNR1 RNA, ribosomal cluster 1
RPE65 retinal pigment epithelium-specific protein 65kDa
SOD2 superoxide dismutase 2, mitochondrial
TP53 tumor protein p53
TRNE