ASXL3, ASXL transcriptional regulator 3, 80816

N. diseases: 149; N. variants: 29
Disease: Bohring syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		0.030 GeneticVariation disease BEFREE Therefore we emphasize that BRPS syndrome, caused by ASXL3 loss-of-function variants, is a clinically distinct intellectual disability syndrome with a recognizable phenotype distinguishable from that of Bohring-Opitz syndrome. 27901041 2017
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		0.030 GeneticVariation disease BEFREE Reported disease-causing mutations in ASXL3 are located mostly in the first half of exon 11, analogous to ASXL1 mutations of which result in Bohring-Opitz syndrome (BOS). 27075689 2016
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		0.030 GeneticVariation disease BEFREE Heterozygous LOF mutations in ASXL1, a paralog of ASXL3, are known to cause Bohring-Opitz syndrome (BOS), and benign LOF mutations in this gene have not been published to date. 26506440 2015