DVL3, dishevelled segment polarity protein 3, 1857

N. diseases: 167; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome 		0.540 GeneticVariation disease BEFREE These findings expand the clinical spectrum of Robinow syndrome associated with DVL3 mutations. 29575616 2018
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome 		0.540 GeneticVariation disease BEFREE In addition to confirming that clustered -1 frameshifting variants in DVL1 and DVL3 are the main contributors to dominant Robinow syndrome, we also found likely pathogenic variants in candidate genes GPC4 and RAC3, both linked to the Wnt signaling pathway. 29276006 2018
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome 		0.540 GeneticVariation disease BEFREE Importantly, analogous frameshift mutations in the human DVL1 and DVL3 genes cause Robinow syndrome, a congenital disorder characterized by similar craniofacial, limb and vertebral malformations. 30521570 2018
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome 		0.540 GermlineCausalMutation disease ORPHANET Here, we review the current knowledge of these peculiar variant alleles in DVL1- and DVL3-mediated Robinow syndrome and further elucidate the phenotypic features present in subjects with DVL1 and DVL3 frameshift mutations. 26924530 2016
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome 		0.540 GeneticVariation disease BEFREE Here, we review the current knowledge of these peculiar variant alleles in DVL1- and DVL3-mediated Robinow syndrome and further elucidate the phenotypic features present in subjects with DVL1 and DVL3 frameshift mutations. 26924530 2016
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome 		0.540 Biomarker disease CTD_human
CUI: C4225164
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 		0.400 Biomarker disease GENOMICS_ENGLAND Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation. 29575616 2018
CUI: C4225164
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 		0.400 Biomarker disease GENOMICS_ENGLAND DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. 26924530 2016
CUI: C4225164
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 		0.400 CausalMutation disease CLINVAR
CUI: C4551476
Disease: Robinow Syndrome, Autosomal Dominant
Robinow Syndrome, Autosomal Dominant 		0.320 GeneticVariation disease BEFREE Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation. 29575616 2018
CUI: C4551476
Disease: Robinow Syndrome, Autosomal Dominant
Robinow Syndrome, Autosomal Dominant 		0.320 GeneticVariation disease BEFREE DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. 26924530 2016
CUI: C4551476
Disease: Robinow Syndrome, Autosomal Dominant
Robinow Syndrome, Autosomal Dominant 		0.320 Biomarker disease CTD_human
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.310 Biomarker disease BEFREE Overexpression of DVL3 resulted in upregulation of β‑catenin and amplification of breast cancer cell growth, which confirmed that Wnt/β‑catenin activation via DVL3 is associated with breast cancer oncogenesis. 28035400 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.310 GeneticVariation disease UNIPROT
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.110 Biomarker group BEFREE When Fz2 and/or Fz7 mutations are combined with mutations in Vangl2, Dvl3, Wnt3a, Wnt5a or Wnt11, an increased frequency of VSDs is observed with Dvl3, Wnt3a and Wnt11; an increased frequency of palate closure defects is observed with Vangl2; and early lethality and enhanced tail shortening are observed with Wnt5a. 23095888 2012
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.110 Biomarker group HPO
CUI: C4551475
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 		0.100 CausalMutation disease CLINVAR DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. 26924530 2016
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		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