History:GENE:TTBK2    

Gene Expression: NPHP1

Gene Data

  • Gene Symbol: NPHP1
  • Gene ID: 4867
  • Synonyms: JBTS4, NPH1, SLSN1
  • Description: nephronophthisis 1 (juvenile)
  • Database Refs: HGNC:7905, MIM:607100, Ensembl:ENSG00000144061, HPRD:02019, HPRD:09524, Vega:OTTHUMG00000131195
  • Links: Allen Brain Atlas,NCBI, GeneCards
Splicing Dynamics: DEXseq identifies changes in 0 out of 24 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 37 diseases, scroll to view all:
  1. Apraxia
  2. Asphyxiating thoracic dystrophy
  3. Chronic kidney failure
  4. Coloboma
  5. Cystic kidney
  6. Developmental disease of mental health
  7. Disease
  8. Disease of anatomical entity
  9. End stage renal failure
  10. Eye and adnexa disease
  11. Eye disease
  12. Familial juvenile hyperuricemic nephropa
  13. Fundus dystrophy
  14. Genetic disease
  15. Globe disease
  16. Hyperuricemia
  17. Intellectual disability
  18. Kidney disease
  19. Kidney failure
  20. Leber congenital amaurosis
  21. Medical disorder
  22. Monogenic disease
  23. Nephronopthisis
  24. Nervous system disease
  25. Physical disorder
  26. Polycystic kidney disease
  27. Polydactyly
  28. Psychomotor disease
  29. Retinal degeneration
  30. Retinal disease
  31. Retinitis pigmentosa
  32. Senior-Loken syndrome
  33. Sensory system disease
  34. Situs inversus
  35. Specific developmental disease
  36. Urinary system disease
  37. Visceral heterotaxy

Stage Associations

This gene is associated with the following stages: