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 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 		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 		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 Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. 7881414 1994
dbSNP: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 CausalMutation CLINVAR Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. 8103403 1993
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 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 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 		G 0.720 CausalMutation CLINVAR Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC. 9223675 1997
dbSNP: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.720 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: 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 		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 		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 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 		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 		A 0.720 CausalMutation CLINVAR Genotype-phenotype correlations in hereditary medullary thyroid carcinoma: oncological features and biochemical properties. 11238493 2001
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 Acceptable age for prophylactic surgery in children with multiple endocrine neoplasia type 2a. 12711285 2003
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 		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 		G 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 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 		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 C620R mutation of the murine ret proto-oncogene: loss of function effect in homozygotes and possible gain of function effect in heterozygotes. 17372903 2007