MFRP, membrane frizzled-related protein, 83552

N. diseases: 63; N. variants: 22
Disease: Photoreceptor degeneration ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		0.010 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