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Gene Expression: PAFAH1B1

Gene Data

  • Gene Symbol: PAFAH1B1
  • Gene ID: 5048
  • Synonyms: LIS1, LIS2, MDCR, MDS, PAFAH
  • Description: platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
  • Database Refs: HGNC:8574, MIM:601545, Ensembl:ENSG00000007168, HPRD:03329, Vega:OTTHUMG00000177574
  • Links: Allen Brain Atlas,NCBI, GeneCards
Splicing Dynamics: DEXseq identifies changes in 1 out of 15 exons in this gene. (More about DEXSeq here)

Cluster Associations

This gene is associated with the following clusters: No Clusters were found

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 33 diseases, scroll to view all:
  1. Brain disease
  2. Central nervous system disease
  3. Choroidal sclerosis
  4. Cognitive disease
  5. Congenital nervous system abnormality
  6. Developmental disease of mental health
  7. Disease
  8. Disease of mental health
  9. Epilepsy
  10. Hereditary choroidal atrophy
  11. Holoprosencephaly
  12. Hydrocephalus
  13. Incontinentia pigmenti achromians
  14. Intellectual disability
  15. Intracranial hypertension
  16. Intractable epilepsy
  17. Lissencephaly
  18. Medical disorder
  19. Microcephaly
  20. Muscle tissue disease
  21. Muscular disease
  22. Myopathy
  23. Nervous system disease
  24. Neuromuscular disease
  25. Neuropathy
  26. Partial central choroid dystrophy
  27. Partial epilepsy
  28. Periventricular nodular heterotopia
  29. Physical disorder
  30. Psychotic disease
  31. Schizophrenia
  32. Specific developmental disease
  33. Tuberous sclerosis

Stage Associations

This gene is associated with the following stages: No Stages were found