MFRP, membrane frizzled-related protein, 83552

N. diseases: 63; N. variants: 22
Disease: Nanophthalmia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4274282
Disease: Nanophthalmia
Nanophthalmia 		0.020 GeneticVariation disease BEFREE Mutations in membrane frizzled-related protein (MFRP) are associated with nanophthalmia, hyperopia, foveoschisis, irregular patches of RPE atrophy, and optic disc drusen in humans. 28002843 2016
CUI: C4274282
Disease: Nanophthalmia
Nanophthalmia 		0.020 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