PRSS56, serine protease 56, 646960

N. diseases: 19; N. variants: 11
Disease: Microphthalmos ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.660 GeneticVariation disease BEFREE This is the first trio-based WGS study for nanophthalmos, revealing the potential role of DNMs in MYRF and rare inherited genetic variants in PRSS56 and MFRP. 31266062 2019
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.660 Biomarker disease BEFREE Transcripts of Prss56, a gene associated with angle-closure glaucoma, posterior microphthalmia and myopia, were increased in Mfrprd6 eyes by 17-fold. 25357075 2014
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.660 GeneticVariation disease BEFREE Mutations in the human PRSS56 gene are associated with posterior microphthalmia and nanopthalmos. 24227917 2013
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.660 GeneticVariation disease BEFREE Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease. 21397065 2011
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.660 Biomarker disease CTD_human Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice. 21532570 2011
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.660 GermlineCausalMutation disease ORPHANET PRSS56 is a good candidate for the causal gene for nanophthalmos in our families. 21850159 2011
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.660 Biomarker disease BEFREE PRSS56 is a good candidate for the causal gene for nanophthalmos in our families. 21850159 2011
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.660 Biomarker disease BEFREE Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice. 21532570 2011
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.660 Biomarker disease HPO