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: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 CausalMutation CLINVAR p.Ser891Ala RET gene mutations in medullary thyroid cancer: Phenotypical and genealogical characterization of 28 apparently unrelated kindreds and founder effect uncovering in Northern Italy. 30927507 2019
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 CausalMutation CLINVAR The modifier role of RET-G691S polymorphism in hereditary medullary thyroid carcinoma: functional characterization and expression/penetrance studies. 25887804 2015
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 CausalMutation CLINVAR Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. 25810047 2015
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 CausalMutation CLINVAR The rare intracellular RET mutation p.S891A in a Chinese Han family with familial medullary thyroid carcinoma. 24845513 2014
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 CausalMutation CLINVAR We report a rare case with pheochromocytoma as the first manifestation of multiple endocrine neoplasia type 2A with RET mutation S891A. 24449023 2014
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 CausalMutation CLINVAR The rare intracellular RET mutation p.Ser891Ala in an apparently sporadic medullary thyroid carcinoma: a case report and review of the literature. 23295303 2012
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 CausalMutation CLINVAR The clinical spectrum of multiple endocrine neoplasia type 2a caused by the rare intracellular RET mutation S891A. 20554711 2010
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 CausalMutation CLINVAR Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes. 20516206 2010
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 CausalMutation CLINVAR Familial prevalence and age of RET germline mutations: implications for screening. 18062802 2008
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 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: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 CausalMutation CLINVAR Estimated risk of pheochromocytoma recurrence after adrenal-sparing surgery in patients with multiple endocrine neoplasia type 2A. 17178962 2006
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 CausalMutation CLINVAR RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor. 15753368 2005
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 CausalMutation CLINVAR Pheochromocytoma and medullary thyroid carcinoma: a new genotype-phenotype correlation of the RET protooncogene 891 germline mutation. 15292360 2004
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 CausalMutation CLINVAR Multiple endocrine neoplasia type 2: evaluation of the genotype-phenotype relationship. 12686527 2003
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 CausalMutation CLINVAR A codon 891 exon 15 RET proto-oncogene mutation in familial medullary thyroid carcinoma: a detection strategy. 10024437 1999
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 CausalMutation CLINVAR Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma. 10445857 1999
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 CausalMutation CLINVAR A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma. 9398735 1997