ASXL3, ASXL transcriptional regulator 3, 80816

N. diseases: 149; N. variants: 29
Disease: Pediatric failure to thrive ×
Source: ALL
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 Biomarker disease BEFREE De novo truncating mutations in Additional sex combs-like 3 (ASXL3) have been identified in individuals with Bainbridge-Ropers syndrome (BRS), characterized by failure to thrive, global developmental delay, feeding problems, hypotonia, dysmorphic features, profound speech delays and intellectual disability. 26647312 2016
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