RET, ret proto-oncogene, 5979

N. diseases: 607; N. variants: 162
Disease: Multiple endocrine neoplasia Type 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs377767398
rs377767398
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		TT 0.700 CausalMutation CLINVAR Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. 20979234 2011
dbSNP: rs377767398
rs377767398
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		CT 0.700 CausalMutation CLINVAR Long term parathyroid function following total parathyroidectomy with autotransplantation in adult patients with MEN2A. 19318731 2009
dbSNP: rs377767398
rs377767398
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		AT 0.700 CausalMutation CLINVAR [Multiple endocrine neoplasia 2a: late manifestation of a newly-discovered mutation]. 18302097 2008
dbSNP: rs377767398
rs377767398
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		CT 0.700 CausalMutation CLINVAR Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease. 12734540 2003
dbSNP: rs377767398
rs377767398
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		TT 0.700 CausalMutation CLINVAR High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain. 9950371 1999