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: rs377767442
rs377767442
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 CausalMutation CLINVAR Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study. 30763276 2019
dbSNP: rs377767442
rs377767442
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 GeneticVariation CLINVAR Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers. 28946813 2017
dbSNP: rs377767442
rs377767442
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 CausalMutation CLINVAR Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers. 28946813 2017
dbSNP: rs377767442
rs377767442
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 GeneticVariation CLINVAR Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma. 27539324 2016
dbSNP: rs377767442
rs377767442
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 GeneticVariation CLINVAR M918V RET mutation causes familial medullary thyroid carcinoma: study of 8 affected kindreds. 27807060 2016
dbSNP: rs377767442
rs377767442
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 CausalMutation CLINVAR M918V RET mutation causes familial medullary thyroid carcinoma: study of 8 affected kindreds. 27807060 2016
dbSNP: rs377767442
rs377767442
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 GeneticVariation CLINVAR Twenty years of lesson learning: how does the RET genetic screening test impact the clinical management of medullary thyroid cancer? 25440022 2015
dbSNP: rs377767442
rs377767442
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 GeneticVariation CLINVAR In silico and in vitro analysis of rare germline allelic variants of RET oncogene associated with medullary thyroid cancer. 21810974 2011
dbSNP: rs377767442
rs377767442
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 CausalMutation CLINVAR In silico and in vitro analysis of rare germline allelic variants of RET oncogene associated with medullary thyroid cancer. 21810974 2011
dbSNP: rs377767442
rs377767442
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 GeneticVariation 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: rs377767442
rs377767442
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 GeneticVariation CLINVAR Only the substitution of methionine 918 with a threonine and not with other residues activates RET transforming potential. 9075701 1997
dbSNP: rs377767442
rs377767442
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 CausalMutation CLINVAR Only the substitution of methionine 918 with a threonine and not with other residues activates RET transforming potential. 9075701 1997
dbSNP: rs377767442
rs377767442
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 GeneticVariation CLINVAR Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain. 9242375 1997
dbSNP: rs377767442
rs377767442
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 GeneticVariation CLINVAR RET activation by germline MEN2A and MEN2B mutations. 8570194 1995
dbSNP: rs377767442
rs377767442
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.700 GeneticVariation CLINVAR Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. 7906417 1994