Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
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
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
0.110 CausalMutation phenotype CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689 2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
0.110 Biomarker phenotype HPO