Disease: Dysmorphic facies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation phenotype CLINVAR Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. 27018474 2016