Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.010 Biomarker BEFREE Although overlapping features with Bohring-Opitz and Bainbridge-Ropers syndromes exist, features that distinguish the ASXL2-associated condition from ASXL1- and ASXL3-related disorders are macrocephaly, absence of growth retardation, and more variability in the degree of intellectual disabilities. 27693232

2016