DVL1, dishevelled segment polarity protein 1, 1855

N. diseases: 181; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome 		0.530 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 		0.530 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 		0.530 GeneticVariation disease BEFREE This work establishes that DVL1 mutations cause a specific RS subtype, RS-OS, and that the osteosclerosis associated with this subtype might be the result of an interaction between the wild-type and mutant alleles and thus lead to elevated canonical Wnt signaling. 25817014 2015
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome 		0.530 GermlineCausalMutation disease ORPHANET DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. 25817016 2015
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome 		0.530 Biomarker disease CTD_human
CUI: C4225363
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		0.400 CausalMutation disease CLINVAR WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. 29276006 2018
CUI: C4225363
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		0.400 CausalMutation disease CLINVAR DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. 26924530 2016
CUI: C4225363
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome. 25817014 2015
CUI: C4225363
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		0.400 CausalMutation disease CLINVAR DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. 25817016 2015
CUI: C4225363
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		0.400 Biomarker disease GENOMICS_ENGLAND DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. 25817016 2015
CUI: C4225363
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		0.400 GeneticVariation disease CLINVAR
CUI: C4551476
Disease: Robinow Syndrome, Autosomal Dominant
Robinow Syndrome, Autosomal Dominant 		0.310 GeneticVariation disease BEFREE DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. 25817016 2015
CUI: C4551476
Disease: Robinow Syndrome, Autosomal Dominant
Robinow Syndrome, Autosomal Dominant 		0.310 Biomarker disease CTD_human
CUI: C0337443
Disease: Sodium measurement
Sodium measurement 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C1879645
Disease: Adverse Event by CTCAE Category
Adverse Event by CTCAE Category 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.200 Biomarker disease RGD Thus cytoplasmic Dishevelled-1 may be involved in the controlled proliferation and migration of myofibroblasts and vascular endothelial cells, hence play a role during the wound healing process after MI. 15256074 2005
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. 25817016 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome. 25817014 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. 17256787 2007
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