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: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR Founder Effect of the RETC611Y Mutation in Multiple Endocrine Neoplasia 2A in Denmark: A Nationwide Study. 29020875 2017
dbSNP: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR Comprehensive Genomic Profiling of Clinically Advanced Medullary Thyroid Carcinoma. 27207748 2016
dbSNP: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR A cohort study on 10-year survival of sporadic medullary thyroid carcinoma with somatic RET mutation. 27847096 2016
dbSNP: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR Skewed mutational spectrum of RET proto-oncogene Exon10 in Iranian patients with medullary thyroid carcinoma. 25694125 2015
dbSNP: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.720 CausalMutation CLINVAR The association between Hirschsprung's disease and multiple endocrine neoplasia type 2a: a systematic review. 24972642 2014
dbSNP: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR Thyroid cancer and co-occurring RET mutations in Hirschsprung disease. 23744765 2013
dbSNP: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene. 21986619 2012
dbSNP: rs77316810
rs77316810
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: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma. 21765987 2011
dbSNP: rs77316810
rs77316810
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: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR "Familial associations in medullary thyroid carcinoma with Hirschsprung disease: the role of the RET-C620 ""Janus"" genetic variation." 20152359 2010
dbSNP: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR A cysteine radical mutation (C620R) (2 patients) was related to Multiple Endocrine Neoplasia Type 2 (MEN2) in the family. 19853744 2009
dbSNP: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. 19336503 2009
dbSNP: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		0.720 GeneticVariation BEFREE A cysteine radical mutation (C620R) (2 patients) was related to Multiple Endocrine Neoplasia Type 2 (MEN2) in the family. 19853744 2009
dbSNP: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR Medullary thyroid cancer: management guidelines of the American Thyroid Association. 19469690 2009
dbSNP: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds. 18206480 2008
dbSNP: rs77316810
rs77316810
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: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR C620R mutation of the murine ret proto-oncogene: loss of function effect in homozygotes and possible gain of function effect in heterozygotes. 17372903 2007
dbSNP: rs77316810
rs77316810
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: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR RET proto-oncogene in Sardinia: V804M is the most frequent mutation and may be associated with FMTC/MEN-2A phenotype. 17316110 2007
dbSNP: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR The Ret(C620R) mutation affects renal and enteric development in a mouse model of Hirschsprung's disease. 16565500 2006
dbSNP: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR The risk of medullary thyroid carcinoma in patients with Hirschsprung's disease. 17021738 2006
dbSNP: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.720 CausalMutation CLINVAR Pyrosequencing technology as a method for the diagnosis of multiple endocrine neoplasia type 2. 14718397 2004
dbSNP: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR Biological effects of the dual phenotypic Janus mutation of ret cosegregating with both multiple endocrine neoplasia type 2 and Hirschsprung's disease. 14715928 2004
dbSNP: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.720 CausalMutation CLINVAR Pyrosequencing technology as a method for the diagnosis of multiple endocrine neoplasia type 2. 14718397 2004