Gene Expression: PMM2

Gene Data

  • Gene Symbol: PMM2
  • Gene ID: 5373
  • Synonyms: CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2
  • Description: phosphomannomutase 2
  • Database Refs: HGNC:9115, MIM:601785, Ensembl:ENSG00000140650, HPRD:03472, Vega:OTTHUMG00000129697
  • Links: Allen Brain Atlas,NCBI, GeneCards
Splicing Dynamics: DEXseq identifies changes in 7 out of 9 exons in this gene. (More about DEXSeq here)

Cluster Associations

This gene is associated with the following clusters:

Disease Associations

This gene is associated with the following diseases. Clicking on the disease will take you to the disease association entry for that disease.

This gene is associated with 21 diseases, scroll to view all:
  1. Carbohydrate metabolism disease
  2. Cerebellar disease
  3. Congenital disorder of glycosylation
  4. Congenital disorder of glycosylation typ
  5. Developmental disease of mental health
  6. DiGeorge syndrome
  7. Disease
  8. Disease of mental health
  9. Disease of metabolism
  10. Esotropia
  11. Galactosemia
  12. Inborn errors carbohydrate metabolism
  13. Inborn metabolic brain disease
  14. Intellectual disability
  15. Metabolic brain disease
  16. Nonketotic hyperglycinemia
  17. Olivopontocerebellar atrophy
  18. Pericardial effusion
  19. Specific developmental disease
  20. Syringomyelia
  21. T cell deficiency

Stage Associations

This gene is associated with the following stages: