WNT5A, Wnt family member 5A, 7474

N. diseases: 375; N. variants: 11
Disease: Robinow Syndrome, Autosomal Dominant ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551476
Disease: Robinow Syndrome, Autosomal Dominant
Robinow Syndrome, Autosomal Dominant 		0.330 Biomarker disease BEFREE De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. 24716670 2015
CUI: C4551476
Disease: Robinow Syndrome, Autosomal Dominant
Robinow Syndrome, Autosomal Dominant 		0.330 GeneticVariation disease BEFREE Causative variants in the non-canonical signaling gene WNT5A underlie a subset of autosomal-dominant Robinow syndrome (DRS) cases, but most individuals with DRS remain without a molecular diagnosis. 25817016 2015
CUI: C4551476
Disease: Robinow Syndrome, Autosomal Dominant
Robinow Syndrome, Autosomal Dominant 		0.330 GeneticVariation disease BEFREE Here, we show that two different missense mutations in WNT5A, which result in amino acid substitutions of highly conserved cysteines, are associated with autosomal dominant Robinow syndrome. 19918918 2010
CUI: C4551476
Disease: Robinow Syndrome, Autosomal Dominant
Robinow Syndrome, Autosomal Dominant 		0.330 Biomarker disease CTD_human