FZD4, frizzled class receptor 4, 8322

N. diseases: 239; N. variants: 28
Disease: Norrie disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266526
Disease: Norrie disease
Norrie disease 		0.350 Biomarker disease BEFREE The data suggest that germline truncating mutations in CTNNB1 cause autosomal dominant syndromic FEVR or Norrie disease. 30640974 2019
CUI: C0266526
Disease: Norrie disease
Norrie disease 		0.350 GeneticVariation disease BEFREE Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. 20340138 2010
CUI: C0266526
Disease: Norrie disease
Norrie disease 		0.350 GeneticVariation disease BEFREE In this study, we report the molecular findings and the related phenotype in five Spanish families affected with Norrie disease or XL-FEVR due to mutations of the NDP gene. 16163268 2005
CUI: C0266526
Disease: Norrie disease
Norrie disease 		0.350 Biomarker disease MGD Mice null for Frizzled4 (Fzd4-/-) are infertile and exhibit impaired corpora lutea formation and function. 16093361 2005
CUI: C0266526
Disease: Norrie disease
Norrie disease 		0.350 Biomarker disease MGD Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. 15035989 2004
CUI: C0266526
Disease: Norrie disease
Norrie disease 		0.350 Biomarker disease MGD Progressive cerebellar, auditory, and esophageal dysfunction caused by targeted disruption of the frizzled-4 gene. 11425903 2001
CUI: C0266526
Disease: Norrie disease
Norrie disease 		0.350 GeneticVariation disease BEFREE Familial exudative vitreoretinopathy (FEVR) is associated with mutations in the Norrie disease gene in X linked pedigrees and with linkage to the EVR1 locus at 11q13 in autosomal dominant cases. 10729291 2000
CUI: C0266526
Disease: Norrie disease
Norrie disease 		0.350 Biomarker disease BEFREE This study provides additional evidence that mutations in the same gene can result in FEVR and Norrie disease. 9143917 1997
CUI: C0266526
Disease: Norrie disease
Norrie disease 		0.350 CausalMutation disease CLINVAR