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: rs77939446
rs77939446
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.700 CausalMutation CLINVAR Prevalence by age and predictors of medullary thyroid cancer in patients with lower risk germline RET proto-oncogene mutations. 24617864 2014
dbSNP: rs77939446
rs77939446
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		T 0.700 CausalMutation CLINVAR Clinical spectrum of MEN2A in a large family caused by the infrequent RET mutation Cys609Phe. 22734615 2013
dbSNP: rs77939446
rs77939446
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.700 CausalMutation CLINVAR Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene. 21986619 2012
dbSNP: rs77939446
rs77939446
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 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: rs77939446
rs77939446
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		T 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: rs77939446
rs77939446
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.700 CausalMutation CLINVAR When is prophylactic thyroidectomy indicated for patients with the RET codon 609 mutation? 19472011 2009
dbSNP: rs77939446
rs77939446
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.700 CausalMutation CLINVAR Pheochromocytoma penetrance varies by RET mutation in MEN 2A. 18063059 2007
dbSNP: rs77939446
rs77939446
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		T 0.700 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: rs77939446
rs77939446
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.700 CausalMutation CLINVAR Evaluation of potential mechanisms underlying genotype-phenotype correlations in multiple endocrine neoplasia type 2. 16715139 2006
dbSNP: rs77939446
rs77939446
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.700 CausalMutation CLINVAR The risk of medullary thyroid carcinoma in patients with Hirschsprung's disease. 17021738 2006
dbSNP: rs77939446
rs77939446
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.700 CausalMutation CLINVAR Medullary thyroid cancer in a patient with Hirschsprung disease with a C609Y germline RET-mutation. 15699703 2005
dbSNP: rs77939446
rs77939446
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.700 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: rs77939446
rs77939446
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.700 CausalMutation CLINVAR Screening of six risk exons of the RET proto-oncogene in families with medullary thyroid carcinoma in the Czech Republic. 15531714 2004
dbSNP: rs77939446
rs77939446
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		T 0.700 CausalMutation CLINVAR Pyrosequencing technology as a method for the diagnosis of multiple endocrine neoplasia type 2. 14718397 2004
dbSNP: rs77939446
rs77939446
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.700 CausalMutation CLINVAR Multiple endocrine neoplasia type 2: evaluation of the genotype-phenotype relationship. 12686527 2003
dbSNP: rs77939446
rs77939446
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.700 CausalMutation CLINVAR Molecular mechanisms of development of multiple endocrine neoplasia 2 by RET mutations. 9681851 1998
dbSNP: rs77939446
rs77939446
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.700 CausalMutation CLINVAR Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation. 9384613 1998
dbSNP: rs77939446
rs77939446
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.700 CausalMutation CLINVAR Occurrence of MEN 2a in familial Hirschsprung's disease: a new indication for genetic testing of the RET proto-oncogene. 9498388 1998
dbSNP: rs77939446
rs77939446
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 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: rs77939446
rs77939446
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		T 0.700 CausalMutation CLINVAR Rapid, nonradioactive screening for mutations in exons 10, 11, and 16 of the RET protooncogene associated with inherited medullary thyroid carcinoma. 9068588 1997
dbSNP: rs77939446
rs77939446
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.700 CausalMutation CLINVAR Age-Related Disease Penetrance in a Large Medullary Thyroid Cancer Family With a Codon 609 RET Gene Mutation. 10462620 1997
dbSNP: rs77939446
rs77939446
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.700 CausalMutation CLINVAR Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma. 8855832 1996
dbSNP: rs77939446
rs77939446
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.700 CausalMutation CLINVAR The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. 8918855 1996
dbSNP: rs77939446
rs77939446
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.700 CausalMutation CLINVAR Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. 7633441 1995
dbSNP: rs77939446
rs77939446
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.700 CausalMutation CLINVAR RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer. 7849720 1994