Gene Expression: CEP290

Gene Data

  • Gene Symbol: CEP290
  • Gene ID: 80184
  • Synonyms: 3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16
  • Description: centrosomal protein 290kDa
  • Database Refs: HGNC:29021, MIM:610142, Ensembl:ENSG00000198707, HPRD:08585, HPRD:10856, Vega:OTTHUMG00000169871
  • Links: Allen Brain Atlas,NCBI, GeneCards
Splicing Dynamics: DEXseq identifies changes in 1 out of 57 exons in this gene. (More about DEXSeq here)

Cluster Associations

This gene is associated with the following clusters: No Clusters were found

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 32 diseases, scroll to view all:
  1. Bardet-Biedl syndrome
  2. Blindness
  3. Coloboma
  4. Complex genetic disease
  5. cone-rod dystrophy
  6. Cystic kidney
  7. Developmental disease of mental health
  8. Disease
  9. Disease of anatomical entity
  10. Eye and adnexa disease
  11. Eye disease
  12. Fundus dystrophy
  13. Gender identity disease
  14. Genetic disease
  15. Globe disease
  16. Hereditary retinal dystrophy
  17. Intellectual disability
  18. Leber congenital amaurosis
  19. Medical disorder
  20. Nervous system disease
  21. Orofaciodigital syndrome
  22. Physical disorder
  23. Polydactyly
  24. Retinal degeneration
  25. Retinal disease
  26. Retinitis pigmentosa
  27. Senior-Loken syndrome
  28. Sensory system disease
  29. Situs inversus
  30. Specific developmental disease
  31. Transsexualism
  32. Visceral heterotaxy

Stage Associations

This gene is associated with the following stages: No Stages were found