Gene Expression: PMP22

Gene Data

  • Gene Symbol: PMP22
  • Gene ID: 5376
  • Synonyms: CMT1A, CMT1E, DSS, GAS-3, HMSNIA, HNPP, Sp110
  • Description: peripheral myelin protein 22
  • Database Refs: HGNC:9118, MIM:601097, Ensembl:ENSG00000109099, HPRD:03059, Vega:OTTHUMG00000058960
  • Links: Allen Brain Atlas,NCBI, GeneCards
Splicing Dynamics: DEXseq identifies changes in 1 out of 7 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 37 diseases, scroll to view all:
  1. 46 XY gonadal dysgenesis
  2. Amyotrophic neuralgia
  3. Asymmetric motor neuropathy
  4. Axonal neuropathy
  5. Brachial plexus neuropathy
  6. Carpal tunnel syndrome
  7. Charcot-Marie-Tooth disease
  8. Charcot-Marie-Tooth disease type 1
  9. Charcot-Marie-Tooth disease type 2
  10. Charcot-Marie-Tooth disease type 3
  11. Chronic inflammatory demyelinating polyr
  12. Chronic polyneuropathy
  13. Demyelinating polyneuropathy
  14. Disease
  15. Disease of anatomical entity
  16. Mononeuropathy
  17. Motor neuritis
  18. Motor peripheral neuropathy
  19. Muscle tissue disease
  20. Muscular atrophy
  21. Muscular disease
  22. Musculoskeletal system disease
  23. Myopathy
  24. Nerve compression syndrome
  25. Nervous system disease
  26. Neuromuscular disease
  27. Neuropathy
  28. Pelizaeus-Merzbacher disease
  29. Peripheral nervous system disease
  30. Peripheral neuropathy
  31. Peroneal nerve paralysis
  32. Plexopathy
  33. Polyneuropathy
  34. Polyradiculoneuropathy
  35. Sensory peripheral neuropathy
  36. Tibial nerve palsy
  37. Ulnar neuropathy

Stage Associations

This gene is associated with the following stages: