DVL1, dishevelled segment polarity protein 1, 1855

N. diseases: 181; N. variants: 16
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044834
rs797044834
Entrez Id: 1855
Gene Symbol: DVL1
DVL1
CUI: C4225363
Disease:
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		G 0.700 CausalMutation CLINVAR WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. 29276006 2018
dbSNP: rs797044834
rs797044834
Entrez Id: 1855
Gene Symbol: DVL1
DVL1
CUI: C4225363
Disease:
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		G 0.700 CausalMutation CLINVAR DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. 25817016 2015