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: rs77709286
rs77709286
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.710 CausalMutation CLINVAR Surgery in MEN 2A Patients Older Than 5 Years with Micro-MTC: Outcome at Long-term Follow-up. 27406704 2016
dbSNP: rs77709286
rs77709286
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 pediatric patients. 23404858 2013
dbSNP: rs77709286
rs77709286
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: rs77709286
rs77709286
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.710 CausalMutation CLINVAR Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGC>TGG) mutation. 18794325 2008
dbSNP: rs77709286
rs77709286
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.710 CausalMutation CLINVAR Evidence of MEN-2 in the original description of classic pheochromocytoma. 17898100 2007
dbSNP: rs77709286
rs77709286
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.710 CausalMutation CLINVAR RET codon 634 mutations in multiple endocrine neoplasia type 2: variable clinical features and clinical outcome. 12788868 2003
dbSNP: rs77709286
rs77709286
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: rs77709286
rs77709286
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.710 CausalMutation CLINVAR RET activation by germline MEN2A and MEN2B mutations. 8570194 1995
dbSNP: rs77709286
rs77709286
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.710 CausalMutation CLINVAR Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. 7915822 1994
dbSNP: rs77709286
rs77709286
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C4048306
Disease:
Multiple endocrine neoplasia Type 2 		G 0.710 CausalMutation CLINVAR Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. 7907913 1994