Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.700 | GeneticVariation | UNIPROT | E50K-OPTN-induced retinal cell death involves the Rab GTPase-activating protein, TBC1D17 mediated block in autophagy. | 24752605 | 2014 |
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0.700 | GeneticVariation | UNIPROT | Enhanced optineurin E50K-TBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucoma. | 23669351 | 2013 |
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0.700 | GeneticVariation | UNIPROT | Optineurin mediates a negative regulation of Rab8 by the GTPase-activating protein TBC1D17. | 22854040 | 2012 |
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0.700 | GeneticVariation | UNIPROT | Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant. | 20085643 | 2010 |
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0.700 | GeneticVariation | UNIPROT | A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants. | 17389490 | 2007 |
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0.700 | GeneticVariation | UNIPROT | Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma. | 15557444 | 2004 |
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0.700 | GeneticVariation | UNIPROT | Defining the pathogenicity of optineurin in juvenile open-angle glaucoma. | 15326130 | 2004 |
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0.700 | GeneticVariation | UNIPROT | Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population. | 15226658 | 2004 |
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0.700 | GeneticVariation | UNIPROT | Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma. | 14597044 | 2003 |
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0.700 | GeneticVariation | UNIPROT | Different optineurin mutation pattern in primary open-angle glaucoma. | 12939304 | 2003 |
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0.700 | GeneticVariation | UNIPROT | Adult-onset primary open-angle glaucoma caused by mutations in optineurin. | 11834836 | 2002 |