rs77724903, RET

N. diseases: 23
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
0.720 GeneticVariation BEFREE Four subjects (aged 31-50 years) with co-occurring RET mutations in exons 10 (C609R; n=1) and 13 (Y791F, n=3) had sporadic short-segment HD with normal thyroid US and serum calcitonin. 23744765 2013
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
0.720 GeneticVariation BEFREE Detection of the Tyr791Phe mutation in MEN2/MTC and also in HSCR families leads to the question whether this mutation has a dual character (gain-of-function as well as loss-of-function). 19826964 2009
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
0.720 CausalMutation CLINVAR
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
0.720 GeneticVariation CLINVAR