History:GENE:ANO5    

Gene Expression: COL2A1

Gene Data

  • Gene Symbol: COL2A1
  • Gene ID: 1280
  • Synonyms: ANFH, AOM, COL11A3, SEDC
  • Description: collagen, type II, alpha 1
  • Database Refs: HGNC:2200, MIM:120140, Ensembl:ENSG00000139219, HPRD:00361, Vega:OTTHUMG00000149896
  • Links: Allen Brain Atlas,NCBI, GeneCards
Splicing Dynamics: DEXseq identifies changes in 5 out of 57 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 63 diseases, scroll to view all:
  1. Achondrogenesis
  2. Achondrogenesis type IA
  3. Achondrogenesis type II
  4. Achondroplasia
  5. Arthritis
  6. Arthropathy
  7. Articular cartilage disease
  8. Bone development disease
  9. Bone disease
  10. Bone inflammation disease
  11. Brachydactyly
  12. Campomelic dysplasia
  13. Cartilage disease
  14. Chondrosarcoma
  15. Cleft palate
  16. Collagen disease
  17. Congenital toxoplasmosis
  18. Connective tissue disease
  19. Diastrophic dysplasia
  20. Disease
  21. Disease of anatomical entity
  22. Ehlers-Danlos syndrome
  23. Exostosis
  24. Eye and adnexa disease
  25. Eye degenerative disease
  26. Eye disease
  27. Genetic disease
  28. Globe disease
  29. Hypochondrogenesis
  30. Hypochondroplasia
  31. Inner ear disease
  32. Ischemic bone disease
  33. Kniest dysplasia
  34. Medical disorder
  35. Metaphyseal dysplasia
  36. Monogenic disease
  37. Multiple epiphyseal dysplasia
  38. Musculoskeletal system disease
  39. Myopia
  40. Nervous system disease
  41. Orofacial cleft
  42. Osteoarthritis
  43. Osteochondrodysplasia
  44. Osteogenesis imperfecta
  45. Osteonecrosis
  46. Physical disorder
  47. Pseudoachondroplasia
  48. Pseudogout
  49. Refractive error
  50. Retinal detachment
  51. Retinal disease
  52. Retinal perforation
  53. Scheuermann's disease
  54. Sensorineural hearing loss
  55. Sensory system disease
  56. Sponastrime dysplasia
  57. Spondyloepimetaphyseal dysplasia
  58. Spondyloepimetaphyseal dysplasia, Strudw
  59. Spondyloepiphyseal dysplasia congenita
  60. Stickler syndrome
  61. Vitreoretinal dystrophy
  62. Vitreous syneresis
  63. Weissenbacher-Zweymüller syndrome

Stage Associations

This gene is associated with the following stages: