FZD4, frizzled class receptor 4, 8322

N. diseases: 239; N. variants: 28
Disease: Retinal Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.330 Biomarker group BEFREE All four probands had the same class of closely related ocular diseases: one proband had FEVR, and three probands had Norrie-like retinopathy. 30640974 2019
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.330 GeneticVariation group BEFREE This suggests that the FZD4 p.[P33S(;)P168S] variant may be a risk factor for retinopathy and restricted intrauterine growth. 26119001 2015
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.330 Biomarker group BEFREE Here we show that the G protein-coupled receptor (GPCR) coagulation factor II receptor-like 1 (F2rl1, previously known as Par2) is abundant in retinal ganglion cells and is associated with new blood vessel formation during retinal development and in ischemic retinopathy. 25216639 2014
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.330 Biomarker group CTD_human Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement. 17103440 2006