OPTN, optineurin, 10133

N. diseases: 136; N. variants: 25
Disease: Glaucoma, Open-Angle ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.500 Biomarker disease CTD_human Optineurin associates with the podocyte Golgi complex to maintain its structure. 25096716 2014
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.500 Biomarker disease CTD_human Processing of optineurin in neuronal cells. 21059646 2011
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.500 GeneticVariation disease BEFREE This study was performed to determine to what extent variants within established genes (MYOC, OPTN, and WDR36) and newly identified common genetic variants (ATOH7, CDKN2B, and SIX1) contribute to the risk of OAG. 21872936 2011
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.500 GeneticVariation disease BEFREE A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family. 19710941 2009
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.500 GeneticVariation disease LHGDN Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma. 19096531 2008
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.500 GeneticVariation disease BEFREE Absence of optineurin (OPTN) gene mutations in Taiwanese patients with juvenile-onset open-angle glaucoma. 18385781 2008
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.500 GeneticVariation disease LHGDN Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma. 18307994 2008
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.500 GeneticVariation disease LHGDN Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients. 17563717 2007
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.500 GeneticVariation disease BEFREE To investigate the role of the common OPTN Met98Lys variant as a risk allele in open-angle glaucoma (OAG), autosomal dominant optic atrophy (ADOA) and Leber's hereditary optic neuropathy (LHON). 16885188 2006
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.500 GeneticVariation disease BEFREE Common polymorphisms in OLFM2 and OPTN may interactively contribute to the development of OAG, indicating a polygenic etiology. 17122126 2006
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.500 GeneticVariation disease LHGDN Confirmation of the adult-onset primary open angle glaucoma locus GLC1B at 2cen-q13 in an Australian family. 16374045 2006
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.500 Biomarker disease BEFREE Defining the pathogenicity of optineurin in juvenile open-angle glaucoma. 15326130 2004
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.500 GeneticVariation disease LHGDN Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population. 15226658 2004
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.500 GeneticVariation disease BEFREE To study the clinical relevance of sequence alterations in the optineurin gene (OPTN) among Japanese patients with open-angle glaucoma, including both primary open-angle glaucoma (POAG) and normal tension glaucoma (NTG). 15370540 2004
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.500 GeneticVariation disease BEFREE The optineurin (OPTN) gene has been reported to possess both causal as well as risk-associated alleles for open-angle glaucoma. 15498064 2004
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.500 GeneticVariation disease LHGDN Defining the pathogenicity of optineurin in juvenile open-angle glaucoma. 15326130 2004
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.500 Biomarker disease LHGDN Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma. 15557444 2004
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.500 GeneticVariation disease LHGDN The M98K variant of the OPTINEURIN (OPTN) gene modifies initial intraocular pressure in patients with primary open angle glaucoma. 14627677 2003
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.500 GeneticVariation disease LHGDN Different optineurin mutation pattern in primary open-angle glaucoma. 12939304 2003
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.500 GeneticVariation disease BEFREE The OPTN sequence variations were not significantly associated with any form of high-tension open-angle glaucoma. 14597044 2003
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.500 Biomarker disease LHGDN Adult-onset primary open-angle glaucoma caused by mutations in optineurin. 11834836 2002
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.500 Biomarker disease HPO