OPTC, opticin, 26254

N. diseases: 14; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
0.030 Biomarker disease BEFREE Our study suggests OPTC as a candidate gene for POAG. 17359525 2007
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
0.030 Biomarker disease BEFREE This study was designed to evaluate the involvement of the CYP1B1, MYOC, OPTN, and OPTC genes in the etiology of adult-onset primary open-angle glaucoma (POAG) found in 251 Indian patients. 17563717 2007
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
0.030 GeneticVariation disease BEFREE Due to opticin's protein profile in the eye, we have also screened OPTC for mutations in individuals with primary open-angle glaucoma (POAG), normal-tension glaucoma (NTG) or AMD. 12019215 2002
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.020 Biomarker disease BEFREE In vivo effect of opticin deficiency in cartilage in a surgically induced mouse model of osteoarthritis. 29323130 2018
CUI: C0406317
Disease: Chronic small plaque psoriasis
Chronic small plaque psoriasis
0.020 GeneticVariation disease BEFREE Tofacitinib was superior to placebo for the treatment of moderate-to-severe plaque psoriasis in the OPT Pivotal 1 and 2, OPT Retreatment studies, but FDA approval was declined for this indication based on issues of clinical efficacy and long-term safety. 30118353 2018
CUI: C0406317
Disease: Chronic small plaque psoriasis
Chronic small plaque psoriasis
0.020 Biomarker disease BEFREE A Phase 3 withdrawal/re-treatment study (NCT01186744; OPT Retreatment) showed tofacitinib re-treatment was effective in patients with chronic plaque psoriasis. 27600367 2017
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.020 Biomarker disease BEFREE The purpose of this study was to test whether mutations in the two members of the class III SLRPs, opticin (OPTC) and dermatan sulfate proteoglycan 3 (EPYC), are responsible for high myopia. 19844586 2009
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.020 Biomarker disease BEFREE Identification of opticin, a member of the small leucine-rich repeat proteoglycan family, in human articular tissues: a novel target for MMP-13 in osteoarthritis. 18164633 2008
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.020 GeneticVariation disease BEFREE Five changes were detected in opticin, Thr177Arg, Arg229His, Arg325Trp, Gly329Ser, and Arg330His, and all but one (Arg229His) were shown to cosegregate with high myopia in families with incomplete penetrance. 17117407 2007
CUI: C0018801
Disease: Heart failure
Heart failure
0.010 GeneticVariation disease BEFREE Optimising pacemaker therapy and medical therapy in pacemaker patients for heart failure: protocol for the OPT-PACE randomised controlled trial. 31320354 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.010 GeneticVariation disease BEFREE Optimising pacemaker therapy and medical therapy in pacemaker patients for heart failure: protocol for the OPT-PACE randomised controlled trial. 31320354 2019
CUI: C0423361
Disease: Posterior Vitreous Detachment
Posterior Vitreous Detachment
0.010 Biomarker disease BEFREE Vitreous bodies identified to have posterior vitreous detachment were examined with phase-contrast microscopy and confocal microscopy after immunohistochemically staining for collagen IV basement membrane markers, in addition to extracellular proteins that characterize the vitreoretinal junction (fibronectin, laminin) and vitreous gel (opticin) markers. 28867131 2018
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.010 Biomarker disease BEFREE Selected baseline characteristics or early improvement in Psoriasis Area and Severity Index (PASI) in the phase 3 tofacitinib study OPT 1 (NCT01276639) were evaluated as predictors for a clinical response (75% improvement in PASI [PASI75]) at week 16. 27538247 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 Biomarker group BEFREE In addition, the CL20i4-EF1alpha-hgamma(c)OPT vector has not caused any tumors in transplanted mice. 20457870 2010
CUI: C1411966
Disease: Clostridium; difficile (disorder)
Clostridium; difficile (disorder)
0.010 GeneticVariation disease BEFREE A new macrocyclic antibiotic, fidaxomicin (OPT-80), causes less alteration to the bowel microbiota of Clostridium difficile-infected patients than does vancomycin. 20724385 2010
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.010 GeneticVariation disease BEFREE Given its expression in the optic nerve, it is likely a mutation in the OPTC gene is also involved in initiating glaucoma. 17563717 2007
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle
0.010 Biomarker disease LHGDN Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change. 17359525 2007
CUI: C0152136
Disease: Low Tension Glaucoma
Low Tension Glaucoma
0.010 GeneticVariation disease BEFREE Due to opticin's protein profile in the eye, we have also screened OPTC for mutations in individuals with primary open-angle glaucoma (POAG), normal-tension glaucoma (NTG) or AMD. 12019215 2002
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.010 GeneticVariation disease BEFREE Due to opticin's protein profile in the eye, we have also screened OPTC for mutations in individuals with primary open-angle glaucoma (POAG), normal-tension glaucoma (NTG) or AMD. 12019215 2002