ASXL3, ASXL transcriptional regulator 3, 80816

N. diseases: 149; N. variants: 29
Disease: Global developmental delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation disease BEFREE Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay. 31180560 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation disease BEFREE De novo loss of function (LOF) mutations in the ASXL3 gene cause Bainbridge-Ropers syndrome, a severe form of intellectual disability (ID) and developmental delay, but there is evidence that they also occur in healthy individuals. 26506440 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation disease BEFREE Furthermore, we expand the knowledge about disease causing mutations and the genotype-phenotype relationships in ASXL3 and provide evidence that rare, nonsynonymous, damaging mutations are not associated with developmental delay or microcephaly. 24044690 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 Biomarker disease HPO