rs146646971, RET

N. diseases: 7
Disease: Multiple Endocrine Neoplasia Type 2a ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Multiple Endocrine Neoplasia Type 2a
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
0.710 GeneticVariation BEFREE Germline RET K666N mutation has been described as a pathogenic mutation with low disease penetrance for medullary thyroid cancer (MTC) without other features of multiple endocrine neoplasia type 2A. 29408964 2018
Multiple Endocrine Neoplasia Type 2a
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
0.710 CausalMutation CLINVAR Germline RET K666N mutation has been described as a pathogenic mutation with low disease penetrance for medullary thyroid cancer (MTC) without other features of multiple endocrine neoplasia type 2A. 29408964 2018
Multiple Endocrine Neoplasia Type 2a
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
0.710 CausalMutation CLINVAR Medullary Thyroid Carcinoma Associated with Germline RETK666N Mutation. 27673361 2016
Multiple Endocrine Neoplasia Type 2a
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
0.710 CausalMutation CLINVAR Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel. 26687385 2016
Multiple Endocrine Neoplasia Type 2a
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
0.710 CausalMutation CLINVAR Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients. 26269449 2015
Multiple Endocrine Neoplasia Type 2a
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
0.710 CausalMutation CLINVAR Functional characterization of the MTC-associated germline RET-K666E mutation: evidence of oncogenic potential enhanced by the G691S polymorphism. 21690267 2011
Multiple Endocrine Neoplasia Type 2a
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
0.710 CausalMutation CLINVAR Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro. 20103606 2010
Multiple Endocrine Neoplasia Type 2a
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
0.710 CausalMutation CLINVAR Nine novel germline gene variants in the RET proto-oncogene identified in twelve unrelated cases. 15858153 2005
Multiple Endocrine Neoplasia Type 2a
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
0.710 GeneticVariation CLINVAR