rs199529397, RET

N. diseases: 2
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
0.020 GeneticVariation BEFREE Somehow, this RET R114H mutation proved to have a role in the etiology of both CIPO and HSCR and could contribute to a more diffuse imbalance of gut dysmotility.© 2016 Wiley Periodicals, Inc. 27273837 2016
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
0.020 GeneticVariation BEFREE This suggests that RET(R114H) is a founder mutation for HSCR in the Chinese population. 20532249 2010
Chronic intestinal pseudo-obstruction
CUI: C0238062
Disease: Chronic intestinal pseudo-obstruction
0.010 GeneticVariation BEFREE Somehow, this RET R114H mutation proved to have a role in the etiology of both CIPO and HSCR and could contribute to a more diffuse imbalance of gut dysmotility.© 2016 Wiley Periodicals, Inc. 27273837 2016