DVL1, dishevelled segment polarity protein 1, 1855

N. diseases: 181; N. variants: 16
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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