rs77503355, RET

N. diseases: 8
Disease: Hirschsprung Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
0.730 GeneticVariation BEFREE In three families second germline mutations were detected: Cys620Phe (exon 10) in MEN2A family, Met918Thr (exon 16) in MEN2B family, and Ser649Leu (exon 11) in HSCR patient. 19826964 2009
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
0.730 GeneticVariation BEFREE This family added a novel RET missense mutation (C620S) predisposing to the association of MEN 2A and Hirschsprung's disease. 10549772 1999
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
0.730 GeneticVariation BEFREE In this report, we describe a new kindred in which the MEN2 and HSCR phenotypes are associated with a single C620S point mutation at one of the cysteine codons of the extracellular domain of the ret protooncogene. 9745455 1998
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
0.730 CausalMutation CLINVAR