Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 5230
  • Symbol: PGK1
  • Description: phosphoglycerate kinase 1

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Disease_Term Source Rank Other Values
Phosphoglycerate kinase 1 deficiency, 300653 (3) OMIM high
  • Genome region : Xq21.1
  • OMIM_ID : 300653 OMIM phenotype ID
  • OMIM_ID : 311800 OMIM gene ID