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: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		0.720 GeneticVariation BEFREE Two families with C618S/Y mutation were categorized as unclassified multiple endocrine neoplasia type 2. 26254625 2016
dbSNP: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR Molecular diagnosis and comprehensive treatment of multiple endocrine neoplasia type 2 in Southeastern Chinese. 25628771 2015
dbSNP: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis. 24152999 2014
dbSNP: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.720 CausalMutation CLINVAR Case report: a p.C618S RET proto-oncogene germline mutation in a large Chinese pedigree with familial medullary thyroid carcinoma. 22068382 2012
dbSNP: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.720 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: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 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: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.720 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: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.720 CausalMutation CLINVAR A Korean family of familial medullary thyroid cancer with Cys618Ser RET germline mutation. 20119574 2010
dbSNP: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.720 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: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.720 CausalMutation CLINVAR Mechanical Complication with Broviac Repair Kit in a 4-Year-Old Boy with MEN 2a. 20041006 2009
dbSNP: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.720 CausalMutation CLINVAR Familial prevalence and age of RET germline mutations: implications for screening. 18062802 2008
dbSNP: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.720 CausalMutation CLINVAR Familial prevalence and age of RET germline mutations: implications for screening. 18062802 2008
dbSNP: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.720 CausalMutation CLINVAR The occurrence and the type of germline mutations in the RET gene in patients with medullary thyroid carcinoma and their unaffected kindred's from Central Poland. 18058472 2007
dbSNP: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR Pheochromocytoma penetrance varies by RET mutation in MEN 2A. 18063059 2007
dbSNP: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center. 17895320 2007
dbSNP: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.720 CausalMutation CLINVAR Pheochromocytoma penetrance varies by RET mutation in MEN 2A. 18063059 2007
dbSNP: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.720 CausalMutation CLINVAR Presymptomatic thyroidectomy in multiple endocrine neoplasia 2a. 16325365 2006
dbSNP: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.720 CausalMutation CLINVAR The novel variants K666E, IVS9-11G-->A, D631V in cis with H665Q, D631E (with C634Y), E623K (in trans with C618S), 616delGAG (in trans with C609Y), Y606C, C630R, and R635-T636insELCR;T636P were detected in patients with various clinical presentations ranging from thyroid goiter, medullary thyroid carcinoma, and pheochromocytoma to classic multiple endocrine neoplasia type 2A. 15858153 2005
dbSNP: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.720 CausalMutation CLINVAR The novel variants K666E, IVS9-11G-->A, D631V in cis with H665Q, D631E (with C634Y), E623K (in trans with C618S), 616delGAG (in trans with C609Y), Y606C, C630R, and R635-T636insELCR;T636P were detected in patients with various clinical presentations ranging from thyroid goiter, medullary thyroid carcinoma, and pheochromocytoma to classic multiple endocrine neoplasia type 2A. 15858153 2005
dbSNP: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR RET mutation profile and variable clinical manifestations in a family with multiple endocrine neoplasia type 2A and Hirschsprung's disease. 11935126 2002
dbSNP: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		0.720 GeneticVariation BEFREE We report here three generations of one MEN-2 family with rare missense mutation at codon 618 (Cys-->Arg) of the RET proto-oncogene. 11386462 2001
dbSNP: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.720 CausalMutation CLINVAR Genotype-phenotype correlation of patients with multiple endocrine neoplasia type 2 in Japan. 9839497 1998
dbSNP: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.720 CausalMutation CLINVAR Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation. 9384613 1998
dbSNP: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.720 CausalMutation CLINVAR Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines. 9879991 1998
dbSNP: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.720 CausalMutation CLINVAR Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines. 9879991 1998