History:GENE:ATP5J    

Gene Expression: HEPH

Gene Data

  • Gene Symbol: HEPH
  • Gene ID: 9843
  • Synonyms: CPL
  • Description: hephaestin
  • Database Refs: HGNC:4866, MIM:300167, Ensembl:ENSG00000089472, HPRD:02159, Vega:OTTHUMG00000021732
  • Links: Allen Brain Atlas,NCBI, GeneCards
Splicing Dynamics: DEXseq identifies changes in 1 out of 25 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 21 diseases, scroll to view all:
  1. Age related macular degeneration
  2. Anemia
  3. Atransferrinemia
  4. Cardiovascular system disease
  5. Congenital disorder of glycosylation typ
  6. Degeneration of macula and posterior pol
  7. Disease
  8. Disease of anatomical entity
  9. Disease of metabolism
  10. Fanconi syndrome
  11. Hematopoietic system disease
  12. Hemochromatosis
  13. Hypochromic anemia
  14. Inborn errors metal metabolism
  15. Iron deficiency anemia
  16. Lymphangiectasis
  17. Macular degeneration
  18. Microcytic anemia
  19. Mineral metabolism disease
  20. Retinal degeneration
  21. Siderosis

Stage Associations

This gene is associated with the following stages: