Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 6595
  • Symbol: SMARCA2
  • Description: SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

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Disease_Term Source Rank Other Values
Nicolaides-Baraitser syndrome, 601358 (3) OMIM high
  • Genome region : 9p24.3
  • OMIM_ID : 600014 OMIM gene ID
  • OMIM_ID : 601358 OMIM phenotype ID
Superior frontal gyrus grey matter volume GWAS high
Lead levels GWAS high
Systolic blood pressure GWAS high
Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU) GWAS high
Amyotrophic lateral sclerosis (sporadic) GWAS high
Parkinson's disease GWAS high
Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) GWAS high