ASXL3, ASXL transcriptional regulator 3, 80816

N. diseases: 77; N. variants: 22
Disease: Abnormality of the columella ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4024158
Disease: Abnormality of the columella
Abnormality of the columella 		0.100 CausalMutation disease CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689 2016