Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5979
Gene Symbol: RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000 CausalMutation CLINVAR Risk Profile of the RET A883F Germline Mutation: An International Collaborative Study. 28323957

2017

Entrez Id: 5979
Gene Symbol: RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000 CausalMutation CLINVAR Medullary thyroid cancer in a 9-week-old infant with familial MEN 2B: Implications for timing of prophylactic thyroidectomy. 22992277

2012

Entrez Id: 5979
Gene Symbol: RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000 CausalMutation CLINVAR Multiple endocrine neoplasia type 2B with a RET proto-oncogene A883F mutation displays a more indolent form of medullary thyroid carcinoma compared with a RET M918T mutation. 21186952

2011

Entrez Id: 5979
Gene Symbol: RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000 CausalMutation CLINVAR Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. 20979234

2011

Entrez Id: 5979
Gene Symbol: RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000 GeneticVariation CLINVAR Familial pediatric endocrine tumors. 21934104

2011

Entrez Id: 5979
Gene Symbol: RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000 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

Entrez Id: 5979
Gene Symbol: RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000 CausalMutation CLINVAR Medullary thyroid carcinoma identified within the first year of life in children with hereditary multiple endocrine neoplasia type 2A (codon 634) and 2B. 19240193

2009

Entrez Id: 5979
Gene Symbol: RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000 CausalMutation CLINVAR Mutational spectrum of multiple endocrine neoplasia type 2 and sporadic medullary thyroid carcinoma in taiwan. 19443294

2009

Entrez Id: 5979
Gene Symbol: RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000 CausalMutation CLINVAR RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest. 19826964

2009

Entrez Id: 5979
Gene Symbol: RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000 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

Entrez Id: 5979
Gene Symbol: RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000 CausalMutation CLINVAR Medullary thyroid carcinoma in a 2-month-old male with multiple endocrine neoplasia 2B and symptoms of pseudo-Hirschsprung disease: a case report. 17848262

2007

Entrez Id: 5979
Gene Symbol: RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000 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

Entrez Id: 5979
Gene Symbol: RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000 CausalMutation CLINVAR External ophthalmic findings in multiple endocrine neoplasia type 2B. 15281979

2004

Entrez Id: 5979
Gene Symbol: RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000 GeneticVariation CLINVAR A novel germline point mutation, c.2304 G-->T, in codon 768 of the RET proto-oncogene in a patient with medullary thyroid carcinoma. 12116277

2002

Entrez Id: 5979
Gene Symbol: RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000 GeneticVariation CLINVAR Prospective trial of unilateral surgery for nonhereditary medullary thyroid carcinoma in patients without germline RET mutations. 12016484

2002

Entrez Id: 5979
Gene Symbol: RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000 GeneticVariation CLINVAR Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients. 11230481

2001

Entrez Id: 5979
Gene Symbol: RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000 CausalMutation CLINVAR A two-hit model for development of multiple endocrine neoplasia type 2B by RET mutations. 10679286

2000

Entrez Id: 5979
Gene Symbol: RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000 GeneticVariation 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

Entrez Id: 5979
Gene Symbol: RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000 GeneticVariation CLINVAR The Glu632-Leu633 deletion in cysteine rich domain of Ret induces constitutive dimerization and alters the processing of the receptor protein. 10490816

1999

Entrez Id: 5979
Gene Symbol: RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000 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

Entrez Id: 5979
Gene Symbol: RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000 CausalMutation CLINVAR Germline mutation of RET codon 883 in two cases of de novo MEN 2B. 9294615

1997

Entrez Id: 5979
Gene Symbol: RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000 CausalMutation CLINVAR Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. 9360560

1997

Entrez Id: 5979
Gene Symbol: RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000 CausalMutation CLINVAR Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain. 9242375

1997

Entrez Id: 5979
Gene Symbol: RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000 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

Entrez Id: 5979
Gene Symbol: RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000 GeneticVariation CLINVAR Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain. 9242375

1997