ASXL3, ASXL transcriptional regulator 3, 80816

N. diseases: 77; N. variants: 22
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.110 CausalMutation disease CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689 2016