Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		0.100 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016