Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE Thus, understanding the molecular mechanisms that contribute to CNV as a consequence of TIMP-3 mutations will provide insight into the pathophysiology in SFD and likely the neovascular component of the more commonly seen AMD. 31757977 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE TIMP-3 suppression induces choroidal neovascularization by moderating the polarization of macrophages in age-related macular degeneration. 30594674 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE These results provide new insights into the pathogenesis of SFD and other retinopathies linked to mutations in TIMP3, such as age-related macular degeneration. 30668888 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE Understanding the molecular functions of wild-type and mutant TIMP3 will provide significant insights into the patho-physiology of SFD and perhaps AMD. 30129971 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE We found that patients with neovascular AMD had lower plasma concentration of TIMP-3 (p = 0.028) than healthy controls. 30288950 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE Interestingly, we observed increased expression of tissue inhibitor of metalloproteinase 3 (Timp3) during the aging process, a gene associated with AMD and Bruch's membrane integrity. 29514656 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE We found that the expression level of LIPC, SLC16A8, and TIMP-3 was significantly associated with AMD pathology in both groups (LIPC: P = 0.008, SLC16A8: P < 0.001, TIMP-3: P < 0.001, respectively). 27966779 2017
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease CTD_human A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988 2016
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE A rare penetrant TIMP3 mutation confers relatively late onset choroidal neovascularisation which can mimic age-related macular degeneration. 26493035 2016
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE A recent genome-wide association studies (GWAS) reported that rs9621532 near the tissue inhibitor of metalloproteinase 3 (TIMP3)/synapsin III (SYN3) region of 22q12.3 is associated with AMD. 23422939 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE Recently, two genome-wide association studies with large cohorts both identified rs9621532, a new single nucleotide polymorphism (SNP) that is associated with advanced age-related macular degeneration (AMD) and located near the TIMP3 gene. 22171703 2012
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE With the sample size of our study, no relationship was found for AMD and the SNPs tested in complement 3 (C3); serpin peptidase inhibitor, clade G, member 1 (SERPING1); vascular endothelial growth factor (VEGF); cholesterol ester transfer protein (CETP); lipoprotein lipase (LPL); hepatic lipase (LIPC); and metallopeptidase inhibitor 3 (TIMP3) genes. 22618592 2012
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE These results confirm associations of AMD with variants near the TIMP3 gene and at loci involved in HDL metabolism. 21613373 2011
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. 20385819 2010
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease LHGDN We also discuss briefly how, despite the lack of inherited mutations in the structural gene, the TIMP3 protein might play a role in the onset and progression of AMD. 16259644 2005
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE We also discuss briefly how, despite the lack of inherited mutations in the structural gene, the TIMP3 protein might play a role in the onset and progression of AMD. 16259644 2005
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 AlteredExpression disease BEFREE Our results were supported by significant accumulation and expression overlap of both TIMP-3 and EFEMP1 between the retinal pigment epithelia and Bruch membrane in the eyes of ML and AMD patients. 15123717 2004
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE Increased expression of TIMP-3 mRNA does not cause accumulation of TIMP-3 in the Bruch membrane of Sorsby fundus dystrophy nor is it likely to cause age-related macular degeneration. 14597066 2003
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE The previously unreported finding of TIMP-3 induced apoptosis of RPE cells may account for some of the early features seen in SFD and ARMD. 11801512 2002
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 AlteredExpression disease BEFREE Increased expression of TIMP-3 is also observed in other degenerative retinal diseases, including the more severe forms of age-related macular degeneration, the most common cause of blindness in the elderly in developed countries. 10854443 2000
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE The purpose of this study was to determine whether TIMP3 is a major susceptibility gene for the AMD phenotype. 9152225 1997
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE The authors' results suggest that TIMP3 is not a major factor in the cause of AMD, AVMD, and CACD. 9152224 1997
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease HPO