Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855677
Disease: Brainstem dysplasia
Brainstem dysplasia
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