| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Familial medullary thyroid carcinoma
|
0.880 | CausalMutation | CLINVAR | ||||||||
Familial medullary thyroid carcinoma
|
0.880 | CausalMutation | CLINVAR | ||||||||
Medullary carcinoma of thyroid
|
0.800 | GeneticVariation | CLINVAR | ||||||||
Multiple Endocrine Neoplasia Type 2a
|
0.740 | GeneticVariation | CLINVAR | ||||||||
Multiple Endocrine Neoplasia Type 2b
|
0.720 | CausalMutation | CLINVAR | ||||||||
Pheochromocytoma
|
0.710 | CausalMutation | CLINVAR | ||||||||
Neoplastic Syndromes, Hereditary
|
0.700 | GeneticVariation | CLINVAR | ||||||||
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
0.700 | CausalMutation | CLINVAR | ||||||||
Multiple Endocrine Neoplasia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Congenital central hypoventilation
|
0.700 | CausalMutation | CLINVAR | ||||||||
RENAL ADYSPLASIA
|
0.700 | CausalMutation | CLINVAR | ||||||||
Malignant neoplasm of breast
|
0.700 | CausalMutation | CLINVAR | ||||||||
Multiple endocrine neoplasia Type 2
|
0.720 | CausalMutation | CLINVAR | RET mutations in exons 13 and 14 of FMTC patients. | 7784092 | 1995 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | RET mutations in exons 13 and 14 of FMTC patients. | 7784092 | 1995 | |||||
Multiple endocrine neoplasia Type 2
|
0.720 | CausalMutation | CLINVAR | "Distinction between sporadic and hereditary medullary thyroid carcinoma (MTC) by mutation analysis of the RET proto-oncogene. ""Study Group Multiple Endocrine Neoplasia Austria (SMENA)""." | 8797874 | 1996 | |||||
Familial medullary thyroid carcinoma
|
0.880 | 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 | |||||
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 | |||||
Medullary carcinoma of thyroid
|
0.800 | 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 | 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 2
|
0.720 | CausalMutation | CLINVAR | Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain. | 9242375 | 1997 | |||||
Multiple Endocrine Neoplasia Type 2b
|
0.720 | GeneticVariation | CLINVAR | Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain. | 9242375 | 1997 | |||||
Multiple Endocrine Neoplasia Type 1
|
0.700 | GeneticVariation | CLINVAR | Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain. | 9242375 | 1997 | |||||
Multiple Endocrine Neoplasia, Type IV
|
0.700 | GeneticVariation | CLINVAR | Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain. | 9242375 | 1997 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain. | 9242375 | 1997 |