Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs377767405
rs377767405
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
A 0.700 CausalMutation CLINVAR Twenty years of lesson learning: how does the RET genetic screening test impact the clinical management of medullary thyroid cancer? 25440022 2015
dbSNP: rs377767405
rs377767405
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
A 0.700 CausalMutation CLINVAR RET genetic screening of sporadic medullary thyroid cancer (MTC) allows the preclinical diagnosis of unsuspected gene carriers and the identification of a relevant percentage of hidden familial MTC (FMTC). 21054478 2011
dbSNP: rs377767405
rs377767405
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
A 0.700 CausalMutation CLINVAR RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center. 17895320 2007
dbSNP: rs377767405
rs377767405
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
A 0.700 CausalMutation CLINVAR A family of multiple endocrine neoplasia type 2A (MEN 2A) with Cys630Tyr RET germline mutation: report of a case. 17527003 2007
dbSNP: rs377767405
rs377767405
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
A 0.700 CausalMutation CLINVAR Penetrance and clinical manifestations of non-hotspot germline RET mutation, C630R, in a family with medullary thyroid carcinoma. 16053382 2005
dbSNP: rs377767405
rs377767405
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
A 0.700 CausalMutation CLINVAR Emergence of medullary thyroid carcinoma in a family with the Cys630Arg RET germline mutation. 15523405 2004
dbSNP: rs377767405
rs377767405
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
A 0.700 CausalMutation CLINVAR Early malignant progression of hereditary medullary thyroid cancer. 14561794 2003
dbSNP: rs377767405
rs377767405
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
T 0.700 CausalMutation CLINVAR Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis. 11073534 2000
dbSNP: rs377767405
rs377767405
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
A 0.700 CausalMutation CLINVAR Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC. 9223675 1997
dbSNP: rs377767405
rs377767405
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
T 0.700 CausalMutation CLINVAR Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype. 9230192 1997
dbSNP: rs377767405
rs377767405
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2
T 0.700 CausalMutation CLINVAR Analysis of RET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas. 8625130 1995