FZD2, frizzled class receptor 2, 2535

N. diseases: 139; N. variants: 6
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
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome 		0.500 GermlineCausalMutation disease ORPHANET WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. 29276006 2018
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome 		0.500 Biomarker disease GENOMICS_ENGLAND A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia. 25759469 2015
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.300 Biomarker disease CTD_human Results of a phase I pilot clinical trial examining the effect of plant-derived resveratrol and grape powder on Wnt pathway target gene expression in colonic mucosa and colon cancer. 21188121 2009
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.300 Biomarker group CTD_human Results of a phase I pilot clinical trial examining the effect of plant-derived resveratrol and grape powder on Wnt pathway target gene expression in colonic mucosa and colon cancer. 21188121 2009
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.200 Biomarker disease RGD A homologue of Drosophila tissue polarity gene frizzled is expressed in migrating myofibroblasts in the infarcted rat heart. 9142123 1997
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		0.200 Biomarker disease RGD "Increased expression of a homologue of drosophila tissue polarity gene ""frizzled"" in left ventricular hypertrophy in the rat, as identified by subtractive hybridization." 8762054 1996
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0014588
Disease: Epispadias
Epispadias 		0.100 Biomarker group HPO
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		0.100 Biomarker disease HPO
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 Biomarker disease HPO
CUI: C0019288
Disease: Hernia, Femoral
Hernia, Femoral 		0.100 Biomarker disease HPO
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.100 Biomarker phenotype HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.100 Biomarker disease HPO