Disease Annotation

Gene Info

  • Species:Human (Homo sapiens)
  • GeneID:6597
  • Symbol:SMARCA4
  • Description:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4

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Disease_Term Source Rank Other Values
{Rhabdoid tumor predisposition syndrome 2}, 613325 (3) OMIM high
  • Genome region :19p13.2
  • OMIM_ID :603254OMIM gene ID
  • OMIM_ID :613325OMIM phenotype ID
Coffin-Siris syndrome 4, 614609 (3) OMIM high
  • Genome region :19p13.2
  • OMIM_ID :603254OMIM gene ID
  • OMIM_ID :614609OMIM phenotype ID
Coronary artery disease GWAS high
LDL cholesterol GWAS high
Coronary artery disease or ischemic stroke GWAS high
Coronary artery disease or large artery stroke GWAS high
Inflammatory skin disease GWAS high