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: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.710 CausalMutation CLINVAR Genetic analysis of a Chinese Han family with multiple endocrine neoplasia type 2A. 23617071 2013
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.710 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: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.710 CausalMutation CLINVAR Molecular genetic diagnostic program of multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma syndromes in Hungary. 11524247 2001
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.710 CausalMutation CLINVAR Familial prevalence and age of RET germline mutations: implications for screening. 18062802 2008
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		A 0.710 CausalMutation CLINVAR Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. 7907913 1994
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.710 CausalMutation CLINVAR RET activation by germline MEN2A and MEN2B mutations. 8570194 1995
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		0.710 GeneticVariation BEFREE Three different known RET germline mutations in exon 11 (codon 634), p.Cys634Arg (c1900 T-->C) (de novo case), p.Cys634Phe (c1901 G-->T), p.Cys634Trp (c1902 C-->G), were detected in three individuals with MEN2 phenotype. 19841562 2010
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.710 CausalMutation CLINVAR Early onset of medullary thyroid carcinoma in a kindred with multiple endocrine neoplasia type iia associated with cutaneous lichen amyloidosis. 11939755 2002
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.710 CausalMutation CLINVAR Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma. 27539324 2016
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.710 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: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.710 CausalMutation CLINVAR Diversity of mutations in the RET proto-oncogene and its oncogenic mechanism in medullary thyroid cancer. 26678667 2016
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.710 CausalMutation CLINVAR Rare manifestation of multiple endocrine neoplasia type 2A & cutaneous lichen amyloidosis in a family with RET gene mutation. 25027091 2014
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.710 CausalMutation CLINVAR Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. 8099202 1993
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.710 CausalMutation CLINVAR High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain. 9950371 1999
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.710 CausalMutation CLINVAR Frequent association between MEN 2A and cutaneous lichen amyloidosis. 12864791 2003
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.710 CausalMutation CLINVAR Genetics of pheochromocytoma and paraganglioma in Spanish patients. 19258401 2009
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.710 CausalMutation CLINVAR Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines. 9879991 1998
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.710 CausalMutation CLINVAR Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. 8103403 1993
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.710 CausalMutation CLINVAR RET mutation p.S891A in a Chinese family with familial medullary thyroid carcinoma and associated cutaneous amyloidosis binding OSMR variant p.G513D. 26356818 2015
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.710 CausalMutation CLINVAR Pheochromocytoma penetrance varies by RET mutation in MEN 2A. 18063059 2007
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.710 CausalMutation CLINVAR Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. 19825962 2009
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.710 CausalMutation CLINVAR Molecular and biochemical screening for the diagnosis and management of medullary thyroid carcinoma in multiple endocrine neoplasia type 2A. 11987030 2002
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.710 CausalMutation CLINVAR Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. 7824936 1995
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.710 CausalMutation CLINVAR [Detection of RET-proto-oncogene mutations in the diagnosis of Type 2 endocrine neoplasia (MEN 2)]. 8765374 1996
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.710 CausalMutation CLINVAR Characterization of wild-type and mutated RET proto- oncogene associated with familial medullary thyroid cancer. 24716929 2014