FZD2, frizzled class receptor 2, 2535

N. diseases: 139; N. variants: 6
Disease: Omodysplasia 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750355
Disease: Omodysplasia 2
Omodysplasia 2 		0.710 GeneticVariation disease UNIPROT Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations. 30455931 2018
CUI: C2750355
Disease: Omodysplasia 2
Omodysplasia 2 		0.710 GeneticVariation disease UNIPROT Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes. 29383834 2018
CUI: C2750355
Disease: Omodysplasia 2
Omodysplasia 2 		0.710 GeneticVariation disease BEFREE Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes. 29383834 2018
CUI: C2750355
Disease: Omodysplasia 2
Omodysplasia 2 		0.710 GeneticVariation disease UNIPROT A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia. 29230162 2017
CUI: C2750355
Disease: Omodysplasia 2
Omodysplasia 2 		0.710 GeneticVariation disease UNIPROT A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia. 25759469 2015
CUI: C2750355
Disease: Omodysplasia 2
Omodysplasia 2 		0.710 Biomarker disease GENOMICS_ENGLAND A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia. 25759469 2015
CUI: C2750355
Disease: Omodysplasia 2
Omodysplasia 2 		0.710 GermlineCausalMutation disease ORPHANET A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia. 25759469 2015
CUI: C2750355
Disease: Omodysplasia 2
Omodysplasia 2 		0.710 CausalMutation disease CLINVAR