Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77724903
rs77724903
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.810 GeneticVariation BEFREE In this study, we have shown that familial medullary thyroid carcinoma (FMTC) mutants RET(Y791F) and RET(S891A) induced, in addition to Tyr(705) phosphorylation, constitutive STAT3 Ser(727) phosphorylation. 17209045

2007
dbSNP: rs77724903
rs77724903
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.810 GeneticVariation UNIPROT Three novel mutations in the RET proto-oncogene. 11692159

2001
dbSNP: rs77724903
rs77724903
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.810 GeneticVariation UNIPROT A RET double mutation in the germline of a kindred with FMTC. 10826520

2000
dbSNP: rs77724903
rs77724903
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.810 GeneticVariation UNIPROT A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma. 10323403

1999
dbSNP: rs77724903
rs77724903
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.810 GeneticVariation UNIPROT A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. 9506724

1998
dbSNP: rs77724903
rs77724903
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.810 GeneticVariation UNIPROT Mutational analysis of the RET proto-oncogene in 71 Japanese patients with medullary thyroid carcinoma. 9621513

1998
dbSNP: rs77724903
rs77724903
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.810 GeneticVariation UNIPROT A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma. 9452077

1998
dbSNP: rs77724903
rs77724903
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.810 GeneticVariation UNIPROT Novel point mutation in exon 10 of the RET proto-oncogene in a family with medullary thyroid carcinoma. 9677065

1998
dbSNP: rs77724903
rs77724903
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.810 GeneticVariation UNIPROT A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma. 9398735

1997
dbSNP: rs77724903
rs77724903
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.810 GeneticVariation UNIPROT Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC. 9223675

1997
dbSNP: rs77724903
rs77724903
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.810 GeneticVariation UNIPROT Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting. 9259198

1997
dbSNP: rs77724903
rs77724903
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.810 GeneticVariation UNIPROT Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A. 8557249

1996
dbSNP: rs77724903
rs77724903
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.810 GeneticVariation UNIPROT Diagnosis of multiple endocrine neoplasia [MEN] 2A, 2B and familial medullary thyroid cancer [FMTC] by multiplex PCR and heteroduplex analyses of RET proto-oncogene mutations. 8807338

1996
dbSNP: rs77724903
rs77724903
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.810 GeneticVariation UNIPROT RET mutations in exons 13 and 14 of FMTC patients. 7784092

1995
dbSNP: rs77724903
rs77724903
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.810 GeneticVariation UNIPROT Analysis of RET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas. 8625130

1995
dbSNP: rs77724903
rs77724903
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.810 GeneticVariation UNIPROT A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC. 7845675

1995
dbSNP: rs77724903
rs77724903
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.810 GeneticVariation UNIPROT Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests. 7915165

1994
dbSNP: rs77724903
rs77724903
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.810 GeneticVariation UNIPROT Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. 7881414

1994
dbSNP: rs77724903
rs77724903
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.810 GeneticVariation UNIPROT RET proto-oncogene mutations in French MEN 2A and FMTC families. 7874109

1994
dbSNP: rs77724903
rs77724903
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.810 GeneticVariation UNIPROT RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer. 7849720

1994
dbSNP: rs77724903
rs77724903
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.810 GeneticVariation UNIPROT Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. 8103403

1993
dbSNP: rs77724903
rs77724903
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		T 0.810 CausalMutation CLINVAR