TIMP3, TIMP metallopeptidase inhibitor 3, 7078

N. diseases: 325; N. variants: 19
Disease: Degenerative disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder 		0.040 GeneticVariation group BEFREE Mutations in the Timp-3 gene cause Sorsby fundus dystrophy (SFD), a hereditary macular degenerative disease. 15123717 2004
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder 		0.040 GeneticVariation group BEFREE TIMP3, which encodes a potent angiogenesis inhibitor, is mutated in Sorsby fundus dystrophy, a macular degenerative disease with submacular choroidal neovascularization. 12652295 2003
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder 		0.040 GeneticVariation group BEFREE Sorsby's fundus dystrophy (SFD) is an autosomal dominant degenerative disease of the macula caused by mutations in the tissue inhibitor of metalloproteinase-3 (TIMP-3) gene. 11821400 2002
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder 		0.040 AlteredExpression group BEFREE We previously described an increase in expression of TIMP3 mRNA in retinas affected by the progressive photoreceptor degenerative disease, simplex retinitis pigmentosa (RP). 7722524 1995