CXCR6, C-X-C motif chemokine receptor 6, 10663

N. diseases: 325; N. variants: 2
Disease: Hirschsprung Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.010 GeneticVariation disease BEFREE We identified in HSCR patients a G-->T missense mutation in EDNRB exon 4 that substitutes the highly conserved Trp-276 residue in the fifth transmembrane helix of the G protein-coupled receptor with a Cys residue (W276C). 8001158 1994