MFRP, membrane frizzled-related protein, 83552

N. diseases: 63; N. variants: 22
Disease: Autosomal recessive retinitis pigmentosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.040 GeneticVariation disease BEFREE Defects in Membrane Frizzled-related Protein (MFRP) cause autosomal recessive retinitis pigmentosa (RP). 24895994 2014
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.040 GeneticVariation disease BEFREE The rd6 mouse is a natural model of an RPE-based (retinal pigment epithelium) autosomal recessive retinitis pigmentosa (RP) caused by mutations in the Mfrp (membrane-type frizzled related protein) gene. 24664762 2014
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.040 Biomarker disease BEFREE This study shows involvement of the TULP1, NR2E3, and MFRP genes in ARRP in Indian cases. 22605927 2012
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.040 Biomarker disease BEFREE The clinical features of MFRP-RP and our preliminary data indicating a response to gene therapy in the rd6 mouse suggest that this form of RP is a potential target for gene-based therapy. 22142163 2012