MFRP, membrane frizzled-related protein, 83552

N. diseases: 63; N. variants: 22
Disease: Severe myopia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.020 Biomarker disease BEFREE Two candidate genes were identified as possible etiologies for the ocular pathologies in our patient: a MFRP duplication on chromosome 11, which may play a role in high myopia and dysregulation of emmetropization, and a GRM8 deletion on chromosome 7, which may cause glutamate-induced excitotoxicity and therefore have a role in the development of JOAG, unrelated to the Emanuel syndrome genotype. 30178914 2018
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.020 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