Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Distal 17p13.3 microdeletion syndrome
0.300 ChromosomalRearrangement disease ORPHANET Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients. 20599530 2011