History:GENE:COL6A3    

Gene Expression: FKRP

Gene Data

  • Gene Symbol: FKRP
  • Gene ID: 79147
  • Synonyms: LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5
  • Description: fukutin related protein
  • Database Refs: HGNC:17997, MIM:606596, Ensembl:ENSG00000181027, HPRD:05962, Vega:OTTHUMG00000183177
  • Links: Allen Brain Atlas,NCBI, GeneCards
Splicing Dynamics: DEXseq identifies changes in 1 out of 5 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 29 diseases, scroll to view all:
  1. Atrophic muscular disease
  2. Becker muscular dystrophy
  3. Buphthalmos
  4. Congenital muscular dystrophy
  5. Congenital nervous system abnormality
  6. Developmental disease of mental health
  7. Dilated cardiomyopathy
  8. Disease
  9. Disease of anatomical entity
  10. Disease of mental health
  11. Fukuyama congenital muscular dystrophy
  12. Hydrophthalmos
  13. Intellectual disability
  14. Intrinsic cardiomyopathy
  15. limb-girdle muscular dystrophy
  16. Lissencephaly
  17. Medical disorder
  18. Microcephaly
  19. Muscle tissue disease
  20. Muscular disease
  21. Muscular dystrophy
  22. Musculoskeletal system disease
  23. Myopathy
  24. Nervous system disease
  25. Neuromuscular disease
  26. Neuropathy
  27. Physical disorder
  28. Specific developmental disease
  29. Walker-Warburg syndrome

Stage Associations

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