Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 6598
  • Symbol: SMARCB1
  • Description: SWI/SNF related BAF chromatin remodeling complex subunit B1

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Disease_Term Source Rank Other Values
{Rhabdoid predisposition syndrome 1}, 609322 (3) OMIM high
  • Genome region : 22q11.23
  • OMIM_ID : 601607 OMIM gene ID
  • OMIM_ID : 609322 OMIM phenotype ID
Rhabdoid tumors, somatic, 609322 (3) OMIM high
  • Genome region : 22q11.23
  • OMIM_ID : 601607 OMIM gene ID
  • OMIM_ID : 609322 OMIM phenotype ID
{Schwannomatosis-1, susceptibility to}, 162091 (3) OMIM high
  • Genome region : 22q11.23
  • OMIM_ID : 162091 OMIM phenotype ID
  • OMIM_ID : 601607 OMIM gene ID
Coffin-Siris syndrome 3, 614608 (3) OMIM high
  • Genome region : 22q11.23
  • OMIM_ID : 601607 OMIM gene ID
  • OMIM_ID : 614608 OMIM phenotype ID
IgG glycosylation GWAS high