ELN, elastin, 2006

N. diseases: 545; N. variants: 61
Disease: Polypoidal choroidal vasculopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.050 Biomarker disease BEFREE By comparing the phenotype of a PCV mouse model expressing protease high temperature requirement factor A1 (HTRA1) in retinal pigment epithelium with transgenic mice expressing the inactive HTRA1<sup>S328A</sup>, we showed that HTRA1-mediated degradation of elastin in choroidal vessels is critical for the development of PCV, which exhibited destructive extracellular matrix remodeling and vascular smooth muscle cell loss. 28941979 2017
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.050 GeneticVariation disease BEFREE There may be significantly different associations in genetic variants of elastin between two angiographic phenotypes of PCV. 25775011 2015
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.050 GeneticVariation disease BEFREE Association of elastin gene polymorphism to age-related macular degeneration and polypoidal choroidal vasculopathy. 22003121 2011
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.050 GeneticVariation disease BEFREE Elastin rs2301995 polymorphism is not associated with polypoidal choroidal vasculopathy in caucasians. 21391811 2011
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.050 GeneticVariation disease BEFREE Elastin gene polymorphisms in neovascular age-related macular degeneration and polypoidal choroidal vasculopathy. 18326737 2008