Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 5373
  • Symbol: PMM2
  • Description: phosphomannomutase 2

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Disease_Term Source Rank Other Values
Congenital disorder of glycosylation, type Ia, 212065 (3) OMIM high
  • Genome region : 16p13.2
  • OMIM_ID : 212065 OMIM phenotype ID
  • OMIM_ID : 601785 OMIM gene ID
Glaucoma (high intraocular pressure) GWAS high