ASXL3, ASXL transcriptional regulator 3, 80816

N. diseases: 149; N. variants: 29
Disease: Dyssomnias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		0.110 GeneticVariation disease 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: C0700201
Disease: Dyssomnias
Dyssomnias 		0.110 Biomarker disease HPO