Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
0.010 GeneticVariation disease BEFREE A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus. 29907796 2019