Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome
0.300 GermlineModifyingMutation disease ORPHANET Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome. 26608785 2015