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Gene Expression: GJB1

Gene Data

  • Gene Symbol: GJB1
  • Gene ID: 2705
  • Synonyms: CMTX, CMTX1, CX32
  • Description: gap junction protein, beta 1, 32kDa
  • Database Refs: HGNC:4283, MIM:304040, Ensembl:ENSG00000169562, HPRD:02367, Vega:OTTHUMG00000021797
  • Links: Allen Brain Atlas,NCBI, GeneCards
Splicing Dynamics: DEXseq identifies changes in 0 out of 3 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 29 diseases, scroll to view all:
  1. Amyotrophic neuralgia
  2. Axonal neuropathy
  3. Brachial plexus neuropathy
  4. Charcot-Marie-Tooth disease
  5. Charcot-Marie-Tooth disease type 1
  6. Charcot-Marie-Tooth disease type 2
  7. Charcot-Marie-Tooth disease type 3
  8. Charcot-Marie-Tooth disease type X
  9. Demyelinating polyneuropathy
  10. Disease
  11. Disease of anatomical entity
  12. Distal hereditary motor neuropathy
  13. Hallermann-Streiff syndrome
  14. Motor neuritis
  15. Motor peripheral neuropathy
  16. Muscle tissue disease
  17. Muscular disease
  18. Musculoskeletal system disease
  19. Myopathy
  20. Nervous system disease
  21. Neuromuscular disease
  22. Neuropathy
  23. Peripheral nervous system disease
  24. Peripheral neuropathy
  25. Plexopathy
  26. Polyneuropathy
  27. Renal carcinoma
  28. Renal cell carcinoma
  29. Sensory peripheral neuropathy

Stage Associations

This gene is associated with the following stages: