History:GENE:ADRA1B    GENE:RYR1    

Gene Expression: NPC1

Gene Data

  • Gene Symbol: NPC1
  • Gene ID: 4864
  • Synonyms: NPC
  • Description: Niemann-Pick disease, type C1
  • Database Refs: HGNC:7897, MIM:607623, Ensembl:ENSG00000141458, HPRD:09622, Vega:OTTHUMG00000131873
  • Links: Allen Brain Atlas,NCBI, GeneCards
Splicing Dynamics: DEXseq identifies changes in 3 out of 28 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 24 diseases, scroll to view all:
  1. Cardiovascular system disease
  2. Central nervous system disease
  3. Disease
  4. Disease of anatomical entity
  5. Disease of metabolism
  6. Gangliosidosis
  7. Histiocytosis
  8. Inborn errors lipid metabolism
  9. Inborn errors of metabolism
  10. Lipid metabolism disease
  11. Lipoidosis
  12. Lymphatic system disease
  13. Lysosomal storage disease
  14. Neonatal jaundice
  15. Nervous system disease
  16. Neurodegenerative disease
  17. Niemann-Pick disease
  18. non-langerhans-cell histiocytosis
  19. Ocular motility disease
  20. Ophthalmoplegia
  21. Pigmentation disease
  22. Sandhoff disease
  23. Sphingolipidosis
  24. Tauopathy

Stage Associations

This gene is associated with the following stages: