MFRP, membrane frizzled-related protein, 83552

N. diseases: 63; N. variants: 22
Disease: NANOPHTHALMOS 2 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836006
Disease: NANOPHTHALMOS 2 (disorder)
NANOPHTHALMOS 2 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. 17167404 2006
CUI: C1836006
Disease: NANOPHTHALMOS 2 (disorder)
NANOPHTHALMOS 2 (disorder) 		0.700 GeneticVariation disease UNIPROT Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. 15976030 2005
CUI: C1836006
Disease: NANOPHTHALMOS 2 (disorder)
NANOPHTHALMOS 2 (disorder) 		0.700 Biomarker disease CTD_human
CUI: C1836006
Disease: NANOPHTHALMOS 2 (disorder)
NANOPHTHALMOS 2 (disorder) 		0.700 CausalMutation disease CLINVAR