ASXL3, ASXL transcriptional regulator 3, 80816

N. diseases: 149; N. variants: 29
Disease: Sleep disturbances ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.110 GeneticVariation phenotype BEFREE We describe a patient with severe developmental delay, feeding problems, short stature, autism, and sleep disturbance with a heterozygous de novo splicing mutation in the ASXL3 gene. 27075689 2016
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.110 CausalMutation phenotype CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689 2016
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.110 Biomarker phenotype HPO