Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 646960
Gene Symbol: PRSS56
PRSS56
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
Entrez Id: 646960
Gene Symbol: PRSS56
PRSS56
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
Entrez Id: 646960
Gene Symbol: PRSS56
PRSS56
0.660 GeneticVariation disease BEFREE Mutations in the human PRSS56 gene are associated with posterior microphthalmia and nanopthalmos. 24227917 2013
Entrez Id: 646960
Gene Symbol: PRSS56
PRSS56
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
Entrez Id: 646960
Gene Symbol: PRSS56
PRSS56
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
Entrez Id: 646960
Gene Symbol: PRSS56
PRSS56
0.660 GermlineCausalMutation disease ORPHANET PRSS56 is a good candidate for the causal gene for nanophthalmos in our families. 21850159 2011
Entrez Id: 646960
Gene Symbol: PRSS56
PRSS56
0.660 Biomarker disease BEFREE PRSS56 is a good candidate for the causal gene for nanophthalmos in our families. 21850159 2011
Entrez Id: 646960
Gene Symbol: PRSS56
PRSS56
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
Entrez Id: 646960
Gene Symbol: PRSS56
PRSS56
0.660 Biomarker disease HPO
Entrez Id: 83552
Gene Symbol: MFRP
MFRP
0.500 GeneticVariation disease BEFREE The membrane frizzled-related protein (MFRP) gene is involved in axial length (AL) regulation and MFRP mutations cause nanophthalmos; also, the hepatocyte growth factor (HGF) gene is reported to result in morphologic changes of the anterior segment and abnormal aqueous regulation that increases the risk of primary angle-closure glaucoma (PACG), while the zinc ring finger 3 (ZNRF3) gene is associated with AL. 30348125 2018
Entrez Id: 83552
Gene Symbol: MFRP
MFRP
0.500 GeneticVariation disease BEFREE Hyperopia (farsightedness) is a common and significant cause of visual impairment, and extreme hyperopia (nanophthalmos) is a consequence of loss-of-function MFRP mutations. 29170418 2017
Entrez Id: 83552
Gene Symbol: MFRP
MFRP
0.500 GeneticVariation disease BEFREE Mutations in MFRP have been reported to cause autosomal recessive posterior microphthalmia, nanophthalmos, and an ophthalmic syndrome characterized by posterior microphthalmia, high hyperopia, retinitis pigmentosa, foveoschisis, and optic disc drusen. 26583794 2016
Entrez Id: 83552
Gene Symbol: MFRP
MFRP
0.500 AlteredExpression disease BEFREE Mutations in the membrane frizzled-related protein (MFRP/Mfrp) gene, specifically expressed in the retinal pigment epithelium (RPE) and ciliary body, cause nanophthalmia or posterior microphthalmia with retinitis pigmentosa in humans, and photoreceptor degeneration in mice. 25357075 2014
Entrez Id: 83552
Gene Symbol: MFRP
MFRP
0.500 GeneticVariation disease BEFREE Novel compound heterozygous mutations in the MFRP gene in a Japanese patient with posterior microphthalmos. 22565643 2012
Entrez Id: 83552
Gene Symbol: MFRP
MFRP
0.500 GeneticVariation disease BEFREE Previous studies associated mutations in the MFRP gene with the syndrome nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen. 23077403 2012
Entrez Id: 83552
Gene Symbol: MFRP
MFRP
0.500 GeneticVariation disease BEFREE To date one gene for nanophthalmos has been identified, encoding the membrane-type frizzled related protein MFRP. 21850159 2011
Entrez Id: 83552
Gene Symbol: MFRP
MFRP
0.500 GeneticVariation disease BEFREE Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex. 19753314 2009
Entrez Id: 83552
Gene Symbol: MFRP
MFRP
0.500 GeneticVariation disease BEFREE Mutations in the membrane-type frizzled-related protein (MFRP) gene have been identified in patients with pathologic high hyperopia associated with nanophthalmos or microphthalmia. 19169412 2009
Entrez Id: 83552
Gene Symbol: MFRP
MFRP
0.500 Biomarker disease BEFREE To identify the disease-causing defect in these families, we first analysed MFRP gene, then some candidate genes (CHX10, OPA1, MITF, SOX2, CRYBB1-3 and CRYBA4) and loci (MCOP1, NNO1 and NNO2) previously implicated in different forms of microphthalmia. 19526372 2009
Entrez Id: 83552
Gene Symbol: MFRP
MFRP
0.500 GeneticVariation disease BEFREE Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia. 18334955 2008
Entrez Id: 83552
Gene Symbol: MFRP
MFRP
0.500 Biomarker disease BEFREE Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization. 18363166 2008
Entrez Id: 83552
Gene Symbol: MFRP
MFRP
0.500 Biomarker disease BEFREE The membrane frizzled-related protein (MFRP) has been proposed as a probable candidate gene for extreme hyperopia and nanophthalmos, which are factors for angle-closure glaucoma. 18781223 2008
Entrez Id: 83552
Gene Symbol: MFRP
MFRP
0.500 GeneticVariation disease BEFREE A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen. 18554571 2008
Entrez Id: 83552
Gene Symbol: MFRP
MFRP
0.500 Biomarker disease LHGDN We demonstrated that this clinical association is caused by a mutation in MFRP, a gene previously implicated in isolated nanophthalmos. 17167404 2006
Entrez Id: 83552
Gene Symbol: MFRP
MFRP
0.500 GeneticVariation disease BEFREE We demonstrated that this clinical association is caused by a mutation in MFRP, a gene previously implicated in isolated nanophthalmos. 17167404 2006