Gene Expression: FBN1

Gene Data

  • Gene Symbol: FBN1
  • Gene ID: 2200
  • Synonyms: ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFS1, OCTD, SGS, SSKS, WMS, WMS2
  • Description: fibrillin 1
  • Database Refs: HGNC:3603, MIM:134797, Ensembl:ENSG00000166147, HPRD:00618, Vega:OTTHUMG00000172218
  • Links: Allen Brain Atlas,NCBI, GeneCards
Splicing Dynamics: DEXseq identifies changes in 0 out of 67 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 77 diseases, scroll to view all:
  1. Aneurysm
  2. Aortic aneurysm
  3. Aortic disease
  4. Aortic valve disease
  5. Aortic valve insufficiency
  6. Aortic valve stenosis
  7. Arteriopathy
  8. Bone development disease
  9. Brachydactyly
  10. Bullous keratopathy
  11. Cardiovascular system disease
  12. Cervical incompetence
  13. Collagen disease
  14. Connective tissue disease
  15. Corneal disease
  16. Corneal edema
  17. Cutis laxa
  18. Dental pulp calcification
  19. Diaphragmatic eventration
  20. Disease
  21. Disease of anatomical entity
  22. Disease of diaphragm
  23. Dissecting aortic aneurysm
  24. Dysostosis
  25. Ehlers-Danlos syndrome
  26. Exfoliation syndrome
  27. Eye accommodation disease
  28. Eye and adnexa disease
  29. Eye disease
  30. Genetic disease
  31. Genetic disorder
  32. Genetic skin disease
  33. Glaucoma
  34. Globe disease
  35. Heart disease
  36. Heart valve disease
  37. Heart valve prolapse
  38. Homocystinuria
  39. Hypersensitivity reaction disease
  40. Hypersensitivity reaction type II diseas
  41. Immune system disease
  42. Inborn metabolic brain disease
  43. Iris disease
  44. Keratopathy
  45. Lens subluxation
  46. Loeys-Dietz syndrome
  47. Marfan syndrome
  48. Medical disorder
  49. Metabolic brain disease
  50. Mitral valve disease
  51. Mitral valve insufficiency
  52. Mitral valve prolapse
  53. Mixed connective tissue disease
  54. Monogenic disease
  55. Musculoskeletal system disease
  56. Myopia
  57. Nervous system disease
  58. Phacogenic glaucoma
  59. Physical disorder
  60. Pneumothorax
  61. Presbyopia
  62. Pseudoxanthoma elasticum
  63. Pulmonary emphysema
  64. Refractive error
  65. Retinal degeneration
  66. Retinal disease
  67. Rheumatic disease
  68. Scleroderma
  69. Sensory system disease
  70. Sulfuraminoacidemia
  71. Supravalvular aortic stenosis
  72. Synostosis
  73. Systemic scleroderma
  74. Thoracic aortic aneurysm
  75. Vascular disease
  76. Weill-Marchesani syndrome
  77. Williams-Beuren syndrome

Stage Associations

This gene is associated with the following stages: