Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 875
  • Symbol: CBS
  • Description: cystathionine beta-synthase

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Disease_Term Source Rank Other Values
Thrombosis, hyperhomocysteinemic, 236200 (3) OMIM high
  • Genome region : 21q22.3
  • OMIM_ID : 236200 OMIM phenotype ID
  • OMIM_ID : 613381 OMIM gene ID
Homocystinuria, B6-responsive and nonresponsive types, 236200 (3) OMIM high
  • Genome region : 21q22.3
  • OMIM_ID : 236200 OMIM phenotype ID
  • OMIM_ID : 613381 OMIM gene ID
Blood metabolite levels GWAS high
Obesity-related traits GWAS high
Blood trace element (Se levels) GWAS high
Plasma homocysteine levels (post-methionine load test) GWAS high
Homocysteine levels GWAS high
Blood and toenail selenium levels GWAS high