RET, ret proto-oncogene, 5979

N. diseases: 607; N. variants: 162
Disease: Multiple Endocrine Neoplasia Type 2a ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		G 0.720 CausalMutation CLINVAR Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. 25810047 2015
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		G 0.720 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: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		G 0.720 CausalMutation CLINVAR The rare intracellular RET mutation p.S891A in a Chinese Han family with familial medullary thyroid carcinoma. 24845513 2014
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.720 GeneticVariation BEFREE We report a rare case with pheochromocytoma as the first manifestation of multiple endocrine neoplasia type 2A with RET mutation S891A. 24449023 2014
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		G 0.720 CausalMutation CLINVAR We report a rare case with pheochromocytoma as the first manifestation of multiple endocrine neoplasia type 2A with RET mutation S891A. 24449023 2014
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		G 0.720 CausalMutation CLINVAR The rare intracellular RET mutation p.Ser891Ala in an apparently sporadic medullary thyroid carcinoma: a case report and review of the literature. 23295303 2012
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.720 GeneticVariation BEFREE The clinical spectrum of multiple endocrine neoplasia type 2a caused by the rare intracellular RET mutation S891A. 20554711 2010
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		G 0.720 CausalMutation CLINVAR The clinical spectrum of multiple endocrine neoplasia type 2a caused by the rare intracellular RET mutation S891A. 20554711 2010
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		G 0.720 CausalMutation CLINVAR Medullary thyroid cancer: management guidelines of the American Thyroid Association. 19469690 2009
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		G 0.720 CausalMutation CLINVAR Ras/ERK1/2-mediated STAT3 Ser727 phosphorylation by familial medullary thyroid carcinoma-associated RET mutants induces full activation of STAT3 and is required for c-fos promoter activation, cell mitogenicity, and transformation. 17209045 2007
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		G 0.720 GeneticVariation CLINVAR RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor. 15753368 2005
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		G 0.720 CausalMutation CLINVAR Guidelines for diagnosis and therapy of MEN type 1 and type 2. 11739416 2001
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		G 0.720 CausalMutation CLINVAR Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma. 10445857 1999
dbSNP: rs75234356
rs75234356
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		G 0.720 CausalMutation CLINVAR A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma. 9398735 1997