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: rs77503355
rs77503355
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.810 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs77503355
rs77503355
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.810 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175 2015
dbSNP: rs77503355
rs77503355
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.810 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs77503355
rs77503355
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.810 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135 2014
dbSNP: rs77503355
rs77503355
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.810 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs77503355
rs77503355
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.810 GeneticVariation UNIPROT Clinical utility gene card for: multiple endocrine neoplasia type 2. 21863057 2012
dbSNP: rs77503355
rs77503355
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		T 0.810 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: rs77503355
rs77503355
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.810 GeneticVariation BEFREE MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T). 22199277 2011
dbSNP: rs77503355
rs77503355
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		T 0.810 CausalMutation CLINVAR The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine tumors: pheochromocytoma, paraganglioma, and medullary thyroid cancer. 20664475 2010
dbSNP: rs77503355
rs77503355
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.810 GeneticVariation UNIPROT Medullary thyroid cancer: management guidelines of the American Thyroid Association. 19469690 2009
dbSNP: rs77503355
rs77503355
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		T 0.810 CausalMutation CLINVAR RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest. 19826964 2009
dbSNP: rs77503355
rs77503355
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		T 0.810 CausalMutation CLINVAR Mutational spectrum of multiple endocrine neoplasia type 2 and sporadic medullary thyroid carcinoma in taiwan. 19443294 2009
dbSNP: rs77503355
rs77503355
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		T 0.810 CausalMutation CLINVAR Histopathologic and clinical features of medullary microcarcinoma and C-cell hyperplasia in prophylactic thyroidectomies for medullary carcinoma: a study of 42 cases. 18976013 2008
dbSNP: rs77503355
rs77503355
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.810 GeneticVariation UNIPROT Guidelines for diagnosis and therapy of MEN type 1 and type 2. 11739416 2001
dbSNP: rs77503355
rs77503355
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		A 0.810 GeneticVariation CLINVAR The different RET-activating capability of mutations of cysteine 620 or cysteine 634 correlates with the multiple endocrine neoplasia type 2 disease phenotype. 9012462 1997
dbSNP: rs77503355
rs77503355
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		T 0.810 CausalMutation CLINVAR Clinical presentations and RET protooncogene mutations in seven multiple endocrine neoplasia type 2 kindreds. 8909322 1996
dbSNP: rs77503355
rs77503355
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.810 GeneticVariation UNIPROT 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: rs77503355
rs77503355
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		T 0.810 CausalMutation CLINVAR Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests. 7915165 1994
dbSNP: rs77503355
rs77503355
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		T 0.810 CausalMutation CLINVAR RET proto-oncogene mutations in French MEN 2A and FMTC families. 7874109 1994
dbSNP: rs77503355
rs77503355
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		A 0.810 CausalMutation CLINVAR