FZD6, frizzled class receptor 6, 8323

N. diseases: 57; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs151339003
rs151339003
Entrez Id: 8323
Gene Symbol: FZD6
FZD6
CUI: C3279974
Disease:
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10 		0.800 GeneticVariation UNIPROT Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia. 21665003 2011
dbSNP: rs151339003
rs151339003
Entrez Id: 8323
Gene Symbol: FZD6
FZD6
CUI: C3279974
Disease:
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10 		T 0.800 CausalMutation CLINVAR
dbSNP: rs786205672
rs786205672
Entrez Id: 8323
Gene Symbol: FZD6
FZD6
CUI: C0455988
Disease:
Hydrops Fetalis, Non-Immune 		G 0.700 GeneticVariation CLINVAR Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families. 26036949 2015
dbSNP: rs151339002
rs151339002
Entrez Id: 8323
Gene Symbol: FZD6
FZD6
CUI: C3279974
Disease:
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10 		T 0.700 CausalMutation CLINVAR
dbSNP: rs3808553
rs3808553
Entrez Id: 8323
Gene Symbol: FZD6
FZD6
CUI: C0027794
Disease:
Neural Tube Defects 		0.010 GeneticVariation BEFREE The rs3808553 of FZD6 is obviously associated with NTDs in Han population of northern China. 24816679 2014
dbSNP: rs151339002
rs151339002
Entrez Id: 8323
Gene Symbol: FZD6
FZD6
CUI: C0037277
Disease:
Skin Diseases, Genetic 		0.010 GeneticVariation BEFREE We mapped this genodermatosis to chromosome 8q22.3, and identified a homozygous nonsense mutation c.1750G>T (p.E584X) in the frizzled 6 (FZD6) gene in all affected individuals. 22211385 2012