FZD2, frizzled class receptor 2, 2535

N. diseases: 139; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555657073
rs1555657073
Entrez Id: 2535
Gene Symbol: FZD2
FZD2
CUI: C2750355
Disease:
Omodysplasia 2
0.700 GeneticVariation UNIPROT Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations. 30455931 2018
dbSNP: rs1555657073
rs1555657073
Entrez Id: 2535
Gene Symbol: FZD2
FZD2
CUI: C2750355
Disease:
Omodysplasia 2
0.700 GeneticVariation UNIPROT Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes. 29383834 2018
dbSNP: rs1555657073
rs1555657073
Entrez Id: 2535
Gene Symbol: FZD2
FZD2
CUI: C2750355
Disease:
Omodysplasia 2
0.700 GeneticVariation UNIPROT A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia. 29230162 2017
dbSNP: rs1555657073
rs1555657073
Entrez Id: 2535
Gene Symbol: FZD2
FZD2
CUI: C2750355
Disease:
Omodysplasia 2
0.700 GeneticVariation UNIPROT A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia. 25759469 2015
dbSNP: rs1223920489
rs1223920489
Entrez Id: 2535
Gene Symbol: FZD2
FZD2
CUI: C4225363
Disease:
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555657045
rs1555657045
Entrez Id: 2535
Gene Symbol: FZD2
FZD2
CUI: C4225363
Disease:
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555657073
rs1555657073
Entrez Id: 2535
Gene Symbol: FZD2
FZD2
CUI: C4225164
Disease:
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555657074
rs1555657074
Entrez Id: 2535
Gene Symbol: FZD2
FZD2
CUI: C4225363
Disease:
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
TT 0.700 GeneticVariation CLINVAR
dbSNP: rs1568105562
rs1568105562
Entrez Id: 2535
Gene Symbol: FZD2
FZD2
CUI: C0349588
Disease:
Short stature
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1568105666
rs1568105666
Entrez Id: 2535
Gene Symbol: FZD2
FZD2
CUI: C2750355
Disease:
Omodysplasia 2
A 0.700 CausalMutation CLINVAR
dbSNP: rs1568105666
rs1568105666
Entrez Id: 2535
Gene Symbol: FZD2
FZD2
CUI: C4225363
Disease:
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
A 0.700 CausalMutation CLINVAR