Hirschsprung disease

Disease ID:437
Name:Hirschsprung disease
Associated with:2 targets
0 immuno-relevant targets
0 immuno-relevant ligands
Database Links
OMIM: 142623
Orphanet: ORPHA388

Targets

PKR1
References:  1
Mutations:  PKR1 is associated with 1 mutation. Click here for details
PKR2
References:  1
Mutations:  PKR2 is associated with 5 mutation. Click here for details

Ligands

No ligand related data available for Hirschsprung disease

References

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1. Ruiz-Ferrer M, Torroglosa A, Núñez-Torres R, de Agustín JC, Antiñolo G, Borrego S. (2011) Expression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCR. PLoS ONE, 6 (8): e23475. [PMID:21858136]