FZD4, frizzled class receptor 4, 8322

N. diseases: 239; N. variants: 28
Disease: Retinopathy of Prematurity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035344
Disease: Retinopathy of Prematurity
Retinopathy of Prematurity 		0.450 GeneticVariation disease BEFREE Severe retinopathy of prematurity associated with FZD4 mutations. 20141357 2010
CUI: C0035344
Disease: Retinopathy of Prematurity
Retinopathy of Prematurity 		0.450 SusceptibilityMutation disease ORPHANET To address the possibility of genetic involvement of FEVR genes in ROP, we performed comprehensive sequence analyses of 53 Japanese patients with advanced ROP for the FEVR-causing genes. 23441120 2013
CUI: C0035344
Disease: Retinopathy of Prematurity
Retinopathy of Prematurity 		0.450 GeneticVariation disease BEFREE Participants with a diagnosis of familial exudative vitreoretinopathy (FEVR), Norrie disease, Coats' disease, bilateral persistent fetal vasculature, and ROP were reviewed for the presence of a FZD4 variant. 26119001 2015
CUI: C0035344
Disease: Retinopathy of Prematurity
Retinopathy of Prematurity 		0.450 CausalMutation disease CLINVAR
CUI: C0035344
Disease: Retinopathy of Prematurity
Retinopathy of Prematurity 		0.450 Biomarker disease BEFREE To address the possibility of genetic involvement of FEVR genes in ROP, we performed comprehensive sequence analyses of 53 Japanese patients with advanced ROP for the FEVR-causing genes. 23441120 2013
CUI: C0035344
Disease: Retinopathy of Prematurity
Retinopathy of Prematurity 		0.450 GeneticVariation disease BEFREE No other FZD4 mutations were found in the patients with ROP. 20008721 2009
CUI: C0035344
Disease: Retinopathy of Prematurity
Retinopathy of Prematurity 		0.450 GeneticVariation disease BEFREE We suggest that rs61749246:C˃A of the FZD4 gene is likely associated with the development of ROP. 29465286 2018