CX3CL1, C-X3-C motif chemokine ligand 1, 6376

N. diseases: 243; N. variants: 6
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 		0.020 Biomarker disease BEFREE Although mutations in eight different genes (EDNRB, EDN3, ECE1, SOX10, RET, GDNF, NTN, SIP1) have been identified in affected individuals, it is now clear that RET and EDNRB are the primary genes implicated in the etiology of HSCR. 16618617 2006
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.020 Biomarker disease BEFREE Recently, germline mutations of RET, GDNF, and NTN genes have been reported in HSCR. 10946353 2000