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: rs77558292
rs77558292
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.700 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: rs77558292
rs77558292
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.700 CausalMutation CLINVAR Mutation analysis of the RET proto-oncogene and early thyroidectomy: results of a Portuguese cancer centre. 17188172 2007
dbSNP: rs77558292
rs77558292
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.700 CausalMutation CLINVAR RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center. 17895320 2007
dbSNP: rs77558292
rs77558292
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.700 CausalMutation CLINVAR Somatic VHL gene alterations in MEN2-associated medullary thyroid carcinoma. 16707008 2006
dbSNP: rs77558292
rs77558292
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.700 CausalMutation CLINVAR [Late onset of medullary thyroid carcinoma with bilateral adrenal pheochromocytomas in the case of patient with MEN 2]. 15771139 2004
dbSNP: rs77558292
rs77558292
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.700 CausalMutation CLINVAR Early malignant progression of hereditary medullary thyroid cancer. 14561794 2003
dbSNP: rs77558292
rs77558292
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.700 CausalMutation CLINVAR Familial form of hirschsprung disease: nucleotide sequence studies reveal point mutations in the RET proto-oncogene in two of six families but not in other candidate genes. 10982477 2000
dbSNP: rs77558292
rs77558292
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.700 CausalMutation CLINVAR Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines. 9879991 1998
dbSNP: rs77558292
rs77558292
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		C 0.700 CausalMutation CLINVAR 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