| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Multiple Endocrine Neoplasia Type 2b
|
0.810 | CausalMutation | CLINVAR | Risk Profile of the RET A883F Germline Mutation: An International Collaborative Study. | 28323957 | 2017 | |||||
Multiple Endocrine Neoplasia Type 2b
|
0.810 | CausalMutation | CLINVAR | We present the clinical data for a family with MEN-2B associated with RET-A883F mutation. | 21186952 | 2011 | |||||
Multiple Endocrine Neoplasia Type 2b
|
0.810 | GeneticVariation | BEFREE | A family with MEN-2B due to RET-A883F mutation displayed a less aggressive form of MTC than what is usually seen in patients with RET-M918T mutation. | 21186952 | 2011 | |||||
Multiple Endocrine Neoplasia Type 2b
|
0.810 | CausalMutation | CLINVAR | External ophthalmic findings in multiple endocrine neoplasia type 2B. | 15281979 | 2004 | |||||
Multiple Endocrine Neoplasia Type 2b
|
0.810 | 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 | |||||
Multiple Endocrine Neoplasia Type 2b
|
0.810 | 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 | |||||
Multiple Endocrine Neoplasia Type 2b
|
0.810 | GeneticVariation | UNIPROT | Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. | 9360560 | 1997 | |||||
Multiple Endocrine Neoplasia Type 2b
|
0.810 | CausalMutation | CLINVAR | Germline mutation of RET codon 883 in two cases of de novo MEN 2B. | 9294615 | 1997 | |||||
Multiple Endocrine Neoplasia Type 2b
|
0.810 | GeneticVariation | UNIPROT | Germline mutation of RET codon 883 in two cases of de novo MEN 2B. | 9294615 | 1997 | |||||
Multiple Endocrine Neoplasia Type 2b
|
0.810 | 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 | |||||
Multiple Endocrine Neoplasia Type 2b
|
0.810 | GeneticVariation | UNIPROT | Two maternally derived missense mutations in the tyrosine kinase domain of the RET protooncogene in a patient with de novo MEN 2B. | 8595427 | 1995 | |||||
Multiple Endocrine Neoplasia Type 2b
|
0.810 | GeneticVariation | UNIPROT | Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. | 7906417 | 1994 | |||||
Multiple Endocrine Neoplasia Type 2b
|
0.810 | GeneticVariation | UNIPROT | A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. | 7906866 | 1994 | |||||
Multiple Endocrine Neoplasia Type 2b
|
0.810 | GeneticVariation | UNIPROT | Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. | 7911697 | 1994 |