RET, ret proto-oncogene, 5979

N. diseases: 10; N. variants: 57
Source: UNIPROT ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74799832
rs74799832
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025269
Disease:
Multiple Endocrine Neoplasia Type 2b 		0.900 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: rs75996173
rs75996173
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.900 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: rs74799832
rs74799832
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025269
Disease:
Multiple Endocrine Neoplasia Type 2b 		0.900 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs75996173
rs75996173
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.900 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs75996173
rs75996173
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.900 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: rs74799832
rs74799832
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025269
Disease:
Multiple Endocrine Neoplasia Type 2b 		0.900 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135 2014
dbSNP: rs75996173
rs75996173
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.900 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135 2014
dbSNP: rs74799832
rs74799832
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025269
Disease:
Multiple Endocrine Neoplasia Type 2b 		0.900 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs75996173
rs75996173
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.900 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs74799832
rs74799832
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025269
Disease:
Multiple Endocrine Neoplasia Type 2b 		0.900 GeneticVariation UNIPROT Clinical utility gene card for: multiple endocrine neoplasia type 2. 21863057 2012
dbSNP: rs75996173
rs75996173
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.900 GeneticVariation UNIPROT Clinical utility gene card for: multiple endocrine neoplasia type 2. 21863057 2012
dbSNP: rs74799832
rs74799832
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025269
Disease:
Multiple Endocrine Neoplasia Type 2b 		0.900 GeneticVariation UNIPROT Medullary thyroid cancer: management guidelines of the American Thyroid Association. 19469690 2009
dbSNP: rs75996173
rs75996173
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.900 GeneticVariation UNIPROT Medullary thyroid cancer: management guidelines of the American Thyroid Association. 19469690 2009
dbSNP: rs74799832
rs74799832
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025269
Disease:
Multiple Endocrine Neoplasia Type 2b 		0.900 GeneticVariation UNIPROT Guidelines for diagnosis and therapy of MEN type 1 and type 2. 11739416 2001
dbSNP: rs75996173
rs75996173
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.900 GeneticVariation UNIPROT Guidelines for diagnosis and therapy of MEN type 1 and type 2. 11739416 2001
dbSNP: rs75996173
rs75996173
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.900 GeneticVariation UNIPROT A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene. 10522989 1999
dbSNP: rs75996173
rs75996173
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.900 GeneticVariation UNIPROT Duplication of 9 base pairs in the critical cysteine-rich domain of the RET proto-oncogene causes multiple endocrine neoplasia type 2A. 9452064 1998
dbSNP: rs75996173
rs75996173
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.900 GeneticVariation UNIPROT Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation. 9384613 1998
dbSNP: rs75996173
rs75996173
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.900 GeneticVariation UNIPROT A duplication of 12 bp in the critical cysteine rich domain of the RET proto-oncogene results in a distinct phenotype of multiple endocrine neoplasia type 2A. 9097963 1997
dbSNP: rs74799832
rs74799832
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025269
Disease:
Multiple Endocrine Neoplasia Type 2b 		0.900 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: rs75996173
rs75996173
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.900 GeneticVariation UNIPROT Mutations of the ret protooncogene in German multiple endocrine neoplasia families: relation between genotype and phenotype. German Medullary Thyroid Carcinoma Study Group. 8626834 1996
dbSNP: rs75996173
rs75996173
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.900 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: rs75996173
rs75996173
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.900 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: rs75996173
rs75996173
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.900 GeneticVariation UNIPROT Germline mutations of the RET proto-oncogene in eight Japanese patients with multiple endocrine neoplasia type 2A (MEN2A). 7860065 1995
dbSNP: rs75996173
rs75996173
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025268
Disease:
Multiple Endocrine Neoplasia Type 2a 		0.900 GeneticVariation UNIPROT RET proto-oncogene mutations in French MEN 2A and FMTC families. 7874109 1994