Disease: Global developmental delay ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312742
rs869312742
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
CUI: C0557874
Disease:
Global developmental delay 		C 0.700 GeneticVariation 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