Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.050 GeneticVariation disease BEFREE The MFRP mutation has also been detected in other studies associating PM with RP. 31264930 2019
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.050 GeneticVariation disease BEFREE Biallelic mutations in the MFRP gene (chromosome 11q23) result in a distinct ocular phenotype characterized by retinitis pigmentosa, foveoschisis, optic nerve head drusen, and posterior microphthalmos. 28511025 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.050 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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.050 GeneticVariation disease BEFREE Previous studies associated mutations in the MFRP gene with the syndrome nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen. 23077403 2012
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.050 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