Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 Biomarker GENOMICS_ENGLAND Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. 30580808

2019