PRSS56, serine protease 56, 646960

N. diseases: 19; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020490
Disease: Hyperopia
Hyperopia
0.020 GeneticVariation disease BEFREE Here, we use a combination of genetic mouse models to demonstrate that Prss56 mutations leading to reduced ocular size and hyperopia act via a loss of function mechanism. 29529029 2018
CUI: C0020490
Disease: Hyperopia
Hyperopia
0.020 GeneticVariation disease BEFREE In this study, variations in PRSS56 were evaluated in patients with either primary angle-closure glaucoma (PACG) or high hyperopia. 24227917 2013