Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795907
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME
0.300 GermlineModifyingMutation disease ORPHANET Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome. 26608785 2015