RET, ret proto-oncogene, 5979

N. diseases: 607; N. variants: 162
Disease: Hirschsprung Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77724903
rs77724903
Entrez Id: 5979
Gene Symbol: RET
RET
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
dbSNP: rs77724903
rs77724903
Entrez Id: 5979
Gene Symbol: RET
RET
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
dbSNP: rs77724903
rs77724903
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease:
Hirschsprung Disease 		T 0.720 CausalMutation CLINVAR
dbSNP: rs77724903
rs77724903
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease:
Hirschsprung Disease 		T 0.720 GeneticVariation CLINVAR