TIMP3, TIMP metallopeptidase inhibitor 3, 7078

N. diseases: 325; N. variants: 19
Disease: Retinal Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.040 GeneticVariation group 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: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.040 GeneticVariation group BEFREE A cohort of 42 patients with the Ser181 Cys TIMP3 mutation were identified from the electronic database of genetic retinal diseases in Moorfields Eye Hospital. 18501328 2008
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.040 GeneticVariation group BEFREE Sorsby's fundus dystrophy (SFD) and age related macular degeneration (ARMD) are retinal diseases associated with a high level of accumulation of mutant and wild type TIMP-3, respectively, in Bruch's membrane. 11801512 2002
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.040 AlteredExpression group BEFREE We hypothesize that overexpression of TIMP-3 may prove to be a critical step in the progression of a variety of degenerative retinopathies. 10854443 2000