DVL3, dishevelled segment polarity protein 3, 1857

N. diseases: 167; N. variants: 6
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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