MFRP, membrane frizzled-related protein, 83552

N. diseases: 63; N. variants: 22
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		0.700 Biomarker disease GENOMICS_ENGLAND Genetic investigation of 93 families with microphthalmia or posterior microphthalmos. 29450879 2018
CUI: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		0.700 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		0.700 GeneticVariation disease CLINVAR Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds. 23742260 2014
CUI: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		0.700 GeneticVariation disease CLINVAR A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy. 20361016 2010
CUI: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		0.700 Biomarker disease GENOMICS_ENGLAND A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. 17167404 2006
CUI: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		0.700 GermlineCausalMutation disease ORPHANET A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. 17167404 2006
CUI: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		0.700 Biomarker disease CTD_human