Disease Annotation

Gene Info

  • Species:Human (Homo sapiens)
  • GeneID:6598
  • Symbol:SMARCB1
  • Description:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

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