MFRP, membrane frizzled-related protein, 83552

N. diseases: 63; N. variants: 22
Disease: Hyperopia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020490
Disease: Hyperopia
Hyperopia 		0.160 GeneticVariation disease BEFREE Hyperopia (farsightedness) is a common and significant cause of visual impairment, and extreme hyperopia (nanophthalmos) is a consequence of loss-of-function MFRP mutations. 29170418 2017
CUI: C0020490
Disease: Hyperopia
Hyperopia 		0.160 GeneticVariation disease BEFREE The purpose of this study was to detect MFRP mutations in 46 unrelated Chinese probands with high hyperopia. 26583794 2016
CUI: C0020490
Disease: Hyperopia
Hyperopia 		0.160 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: C0020490
Disease: Hyperopia
Hyperopia 		0.160 Biomarker disease BEFREE Evaluation of MFRP as a candidate gene for high hyperopia. 19169412 2009
CUI: C0020490
Disease: Hyperopia
Hyperopia 		0.160 GeneticVariation disease BEFREE Sequence variants of the MFRP gene do not appear to be associated with either the less severe forms of hyperopia, extreme forms of limited eye growth and development, or high myopia. 18334955 2008
CUI: C0020490
Disease: Hyperopia
Hyperopia 		0.160 GeneticVariation disease BEFREE Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. 15976030 2005
CUI: C0020490
Disease: Hyperopia
Hyperopia 		0.160 GeneticVariation disease LHGDN Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. 15976030 2005
CUI: C0020490
Disease: Hyperopia
Hyperopia 		0.160 Biomarker disease HPO