Disease: Shprintzen syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.300 GermlineModifyingMutation disease ORPHANET Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome. 26608785 2015