Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4273897
Disease: Distal monosomy 1q
Distal monosomy 1q
0.300 ChromosomalRearrangement disease ORPHANET A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome. 24193349 2014