FZD4, frizzled class receptor 4, 8322

N. diseases: 239; N. variants: 28
Disease: Norrie disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358284
rs80358284
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C0266526
Disease:
Norrie disease 		C 0.700 CausalMutation CLINVAR
dbSNP: rs774200714
rs774200714
Entrez Id: 8322;100506368
Gene Symbol: FZD4;FZD4-DT
FZD4;FZD4-DT
CUI: C0266526
Disease:
Norrie disease 		0.010 GeneticVariation BEFREE In this report we describe four novel mutations (R41K, H42R, K58N, and Y120C) in the Norrie disease gene associated with one X-linked and four sporadic cases of FEVR. 9143917 1997