Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs373425395
rs373425395
OPTN
0.700 GeneticVariation UNIPROT E50K-OPTN-induced retinal cell death involves the Rab GTPase-activating protein, TBC1D17 mediated block in autophagy. 24752605

2014
dbSNP: rs373425395
rs373425395
OPTN
0.700 GeneticVariation UNIPROT Enhanced optineurin E50K-TBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucoma. 23669351

2013
dbSNP: rs373425395
rs373425395
OPTN
0.700 GeneticVariation UNIPROT Optineurin mediates a negative regulation of Rab8 by the GTPase-activating protein TBC1D17. 22854040

2012
dbSNP: rs373425395
rs373425395
OPTN
0.700 GeneticVariation UNIPROT Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant. 20085643

2010
dbSNP: rs373425395
rs373425395
OPTN
0.700 GeneticVariation UNIPROT A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants. 17389490

2007
dbSNP: rs373425395
rs373425395
OPTN
0.700 GeneticVariation UNIPROT Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma. 15557444

2004
dbSNP: rs373425395
rs373425395
OPTN
0.700 GeneticVariation UNIPROT Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population. 15226658

2004
dbSNP: rs373425395
rs373425395
OPTN
0.700 GeneticVariation UNIPROT Defining the pathogenicity of optineurin in juvenile open-angle glaucoma. 15326130

2004
dbSNP: rs373425395
rs373425395
OPTN
0.700 GeneticVariation UNIPROT Among them, only E103D, H486R, V148V, and IVS13+21C-->G were found exclusively in patients with POAG, whereas P199P, T202T, and IVS8+20G-->A were present only in control subjects. 12939304

2003
dbSNP: rs373425395
rs373425395
OPTN
0.700 GeneticVariation UNIPROT Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma. 14597044

2003
dbSNP: rs373425395
rs373425395
OPTN
0.700 GeneticVariation UNIPROT Adult-onset primary open-angle glaucoma caused by mutations in optineurin. 11834836

2002