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 		0.720 GeneticVariation BEFREE In this report, we describe a new kindred in which the MEN2 and HSCR phenotypes are associated with a single C620S point mutation at one of the cysteine codons of the extracellular domain of the ret protooncogene. 9745455 1998
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 Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines. 9879991 1998
dbSNP: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR Frequency of RET mutations in long- and short-segment Hirschsprung disease. 9090527 1997
dbSNP: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 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: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR Clinical presentations and RET protooncogene mutations in seven multiple endocrine neoplasia type 2 kindreds. 8909322 1996
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 		A 0.720 CausalMutation CLINVAR RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer. 7849720 1994
dbSNP: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.720 CausalMutation CLINVAR Familial medullary thyroid carcinoma with noncysteine ret mutations: phenotype-genotype relationship in a large series of patients. 11502806 2001
dbSNP: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR Association of multiple endocrine neoplasia type 2 and Hirschsprung disease. 9681852 1998
dbSNP: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems. 10790203 2000
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 Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. 7633441 1995
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 		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 		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 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 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 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 		G 0.720 CausalMutation CLINVAR Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis. 11073534 2000
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 mutations in French MEN 2A and FMTC families. 7874109 1994
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 "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 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 		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