| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Costello syndrome (disorder)
|
0.830 | CausalMutation | CLINVAR | HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome. | 21850009 | 2011 | |||||
Costello syndrome (disorder)
|
0.830 | CausalMutation | CLINVAR | HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. | 16372351 | 2006 | |||||
Costello syndrome (disorder)
|
0.830 | CausalMutation | CLINVAR | To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p.G13C and individuals with p.G12S. | 21438134 | 2011 | |||||
Costello syndrome (disorder)
|
0.830 | CausalMutation | CLINVAR | A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. | 23093928 | 2012 | |||||
Costello syndrome (disorder)
|
0.830 | CausalMutation | CLINVAR | Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. | 18042262 | 2008 | |||||
Costello syndrome (disorder)
|
0.830 | CausalMutation | CLINVAR | An unexpected new role of mutant Ras: perturbation of human embryonic development. | 17211612 | 2007 | |||||
Costello syndrome (disorder)
|
0.830 | CausalMutation | CLINVAR | HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. | 16329078 | 2006 | |||||
Nevus Sebaceus of Jadassohn
|
0.800 | CausalMutation | CLINVAR | ||||||||
Nevus Sebaceus of Jadassohn
|
0.800 | CausalMutation | CLINVAR | ||||||||
Thyroid Neoplasm
|
0.710 | CausalMutation | CLINVAR | Selumetinib-enhanced radioiodine uptake in advanced thyroid cancer. | 23406027 | 2013 | |||||
Thyroid Neoplasm
|
0.710 | CausalMutation | CLINVAR | Prospective enterprise-level molecular genotyping of a cohort of cancer patients. | 25157968 | 2014 | |||||
Thyroid Neoplasm
|
0.710 | CausalMutation | CLINVAR | Phase II trial of sorafenib in metastatic thyroid cancer. | 19255327 | 2009 | |||||
Thyroid Neoplasm
|
0.710 | CausalMutation | CLINVAR | Phase II trial of sorafenib in metastatic thyroid cancer. | 19255327 | 2009 | |||||
Organoid Nevus Phakomatosis
|
0.710 | CausalMutation | CLINVAR | ||||||||
Thyroid Neoplasm
|
0.710 | CausalMutation | CLINVAR | Selumetinib-enhanced radioiodine uptake in advanced thyroid cancer. | 23406027 | 2013 | |||||
Thyroid Neoplasm
|
0.710 | CausalMutation | CLINVAR | Hyperactive Ras in developmental disorders and cancer. | 17384584 | 2007 | |||||
Thyroid Neoplasm
|
0.710 | CausalMutation | CLINVAR | Beneficial effects of sorafenib on tumor progression, but not on radioiodine uptake, in patients with differentiated thyroid carcinoma. | 19773371 | 2009 | |||||
Thyroid Neoplasm
|
0.710 | CausalMutation | CLINVAR | Beneficial effects of sorafenib on tumor progression, but not on radioiodine uptake, in patients with differentiated thyroid carcinoma. | 19773371 | 2009 | |||||
Organoid Nevus Phakomatosis
|
0.710 | CausalMutation | CLINVAR | ||||||||
Thyroid Neoplasm
|
0.710 | CausalMutation | CLINVAR | Hyperactive Ras in developmental disorders and cancer. | 17384584 | 2007 | |||||
NEVUS SPILUS, SOMATIC
|
0.700 | CausalMutation | CLINVAR | ||||||||
NEVUS, EPIDERMAL (disorder)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Noonan Syndrome 1
|
0.700 | CausalMutation | CLINVAR | ||||||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. | 16329078 | 2006 | |||||
Nevus sebaceous
|
0.700 | CausalMutation | CLINVAR | Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus. | 23096712 | 2013 |