Gene Expression: POMGNT1

Gene Data

  • Gene Symbol: POMGNT1
  • Gene ID: 55624
  • Synonyms: GNTI.2, GnT I.2, LGMD2O, MDDGA3, MDDGB3, MDDGC3, MEB, MGAT1.2, gnT-I.2
  • Description: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
  • Database Refs: HGNC:19139, MIM:606822, Ensembl:ENSG00000085998, HPRD:09493, Vega:OTTHUMG00000007604
  • Links: Allen Brain Atlas,NCBI, GeneCards
Splicing Dynamics: DEXseq identifies changes in 2 out of 36 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 27 diseases, scroll to view all:
  1. Atrophic muscular disease
  2. Congenital muscular dystrophy
  3. Congenital nervous system abnormality
  4. Developmental disease of mental health
  5. Disease
  6. Disease of anatomical entity
  7. Dysentery
  8. Fukuyama congenital muscular dystrophy
  9. Hydrocephalus
  10. Intellectual disability
  11. Intestinal infectious disease
  12. Intracranial hypertension
  13. limb-girdle muscular dystrophy
  14. Lissencephaly
  15. Medical disorder
  16. Microcephaly
  17. Muscle tissue disease
  18. Muscular disease
  19. Muscular dystrophy
  20. Musculoskeletal system disease
  21. Myopathy
  22. Nervous system disease
  23. Neuromuscular disease
  24. Neuropathy
  25. Physical disorder
  26. Specific developmental disease
  27. Walker-Warburg syndrome

Stage Associations

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