PRSS56, serine protease 56, 646960

N. diseases: 19; N. variants: 11
Disease: MICROPHTHALMIA, ISOLATED 6 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150757
Disease: MICROPHTHALMIA, ISOLATED 6
MICROPHTHALMIA, ISOLATED 6 		0.900 Biomarker disease GENOMICS_ENGLAND Genetic investigation of 93 families with microphthalmia or posterior microphthalmos. 29450879 2018
CUI: C3150757
Disease: MICROPHTHALMIA, ISOLATED 6
MICROPHTHALMIA, ISOLATED 6 		0.900 GeneticVariation disease UNIPROT Mutations in a novel serine protease PRSS56 in families with nanophthalmos. 21850159 2011
CUI: C3150757
Disease: MICROPHTHALMIA, ISOLATED 6
MICROPHTHALMIA, ISOLATED 6 		0.900 Biomarker disease GENOMICS_ENGLAND Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease. 21397065 2011
CUI: C3150757
Disease: MICROPHTHALMIA, ISOLATED 6
MICROPHTHALMIA, ISOLATED 6 		0.900 Biomarker disease MGD Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice. 21532570 2011
CUI: C3150757
Disease: MICROPHTHALMIA, ISOLATED 6
MICROPHTHALMIA, ISOLATED 6 		0.900 GeneticVariation disease UNIPROT Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease. 21397065 2011
CUI: C3150757
Disease: MICROPHTHALMIA, ISOLATED 6
MICROPHTHALMIA, ISOLATED 6 		0.900 GeneticVariation disease UNIPROT Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice. 21532570 2011
CUI: C3150757
Disease: MICROPHTHALMIA, ISOLATED 6
MICROPHTHALMIA, ISOLATED 6 		0.900 Biomarker disease CTD_human
CUI: C3150757
Disease: MICROPHTHALMIA, ISOLATED 6
MICROPHTHALMIA, ISOLATED 6 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C3150757
Disease: MICROPHTHALMIA, ISOLATED 6
MICROPHTHALMIA, ISOLATED 6 		0.900 CausalMutation disease CLINVAR