Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Multiple Endocrine Neoplasia Type 2a
0.740 GeneticVariation BEFREE This family of 11 individuals with familial MTC type of MEN 2A syndrome demonstrated the moderate risk RET p.Val804Met (protein valine at residue 804 replaced by methionine) genetic mutation, with 2 of the relatives presenting with dermal hyperneury, cutaneous lesions classically described in MEN 2B syndrome, and 1 relative also showing multiple sclerotic fibromas, a cutaneous manifestation of PTEN (phosphatase and tensin homologue) hamartoma-tumor syndrome. 29049491 2017
Multiple Endocrine Neoplasia Type 2a
0.740 GeneticVariation BEFREE A NOVEL DOUBLE MUTATION VAL648ILE AND VAL804LEU OF RET PROTO-ONCOGENE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE 2. 26247112 2015
Multiple Endocrine Neoplasia Type 2a
0.740 CausalMutation CLINVAR Twenty years of lesson learning: how does the RET genetic screening test impact the clinical management of medullary thyroid cancer? 25440022 2015
Multiple Endocrine Neoplasia Type 2a
0.740 CausalMutation CLINVAR Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. 25810047 2015
Multiple Endocrine Neoplasia Type 2a
0.740 CausalMutation CLINVAR In silico and in vitro analysis of rare germline allelic variants of RET oncogene associated with medullary thyroid cancer. 21810974 2011
Multiple Endocrine Neoplasia Type 2a
0.740 CausalMutation CLINVAR Germline RET sequence variation I852M and occult medullary thyroid cancer: harmless polymorphism or causative mutation? 21711375 2011
Multiple Endocrine Neoplasia Type 2a
0.740 CausalMutation CLINVAR A novel de novo germ-line V292M mutation in the extracellular region of RET in a patient with phaeochromocytoma and medullary thyroid carcinoma: functional characterization. 20039896 2010
Multiple Endocrine Neoplasia Type 2a
0.740 GeneticVariation BEFREE RET proto-oncogene in Sardinia: V804M is the most frequent mutation and may be associated with FMTC/MEN-2A phenotype. 17316110 2007
Multiple Endocrine Neoplasia Type 2a
0.740 CausalMutation CLINVAR New era: prophylactic surgery for patients with multiple endocrine neoplasia-2a. 16813623 2006
Multiple Endocrine Neoplasia Type 2a
0.740 GeneticVariation BEFREE Some studies have suggested that the V804L mutation causes the low penetrance multiple endocrine neoplasia type 2 syndrome, with late onset and relatively indolent course, whereas others have reported that V804L and V804M have an aggressive potential. 15741265 2005
Multiple Endocrine Neoplasia Type 2a
0.740 CausalMutation CLINVAR Disease associated mutations at valine 804 in the RET receptor tyrosine kinase confer resistance to selective kinase inhibitors. 15184865 2004
Multiple Endocrine Neoplasia Type 2a
0.740 CausalMutation CLINVAR Germline RET V804M mutation associated with multiple endocrine neoplasia type 2A. 15386323 2004
Multiple Endocrine Neoplasia Type 2a
0.740 CausalMutation CLINVAR Familial medullary thyroid carcinoma: clinical variability and low aggressiveness associated with RET mutation at codon 804. 11932300 2002
Multiple Endocrine Neoplasia Type 2a
0.740 CausalMutation CLINVAR A RET double mutation in the germline of a kindred with FMTC. 10826520 2000
Multiple Endocrine Neoplasia Type 2a
0.740 CausalMutation CLINVAR A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma. 9452077 1998
Multiple Endocrine Neoplasia Type 2a
0.740 CausalMutation CLINVAR Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain. 9242375 1997
Multiple Endocrine Neoplasia Type 2a
0.740 GeneticVariation CLINVAR Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain. 9242375 1997
Multiple Endocrine Neoplasia Type 2a
0.740 CausalMutation CLINVAR The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. 8918855 1996
Multiple Endocrine Neoplasia Type 2a
0.740 GeneticVariation CLINVAR