Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Nevus Sebaceus of Jadassohn
|
0.800 | CausalMutation | CLINVAR | ||||||||
Nevus Sebaceus of Jadassohn
|
0.800 | CausalMutation | CLINVAR | ||||||||
Organoid Nevus Phakomatosis
|
0.710 | CausalMutation | CLINVAR | ||||||||
Organoid Nevus Phakomatosis
|
0.710 | CausalMutation | CLINVAR | ||||||||
NEVUS SPILUS, SOMATIC
|
0.700 | CausalMutation | CLINVAR | ||||||||
NEVUS, EPIDERMAL (disorder)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Noonan Syndrome 1
|
0.700 | CausalMutation | CLINVAR | ||||||||
GIANT PIGMENTED HAIRY NEVUS
|
0.700 | CausalMutation | CLINVAR | ||||||||
SPITZ NEVUS, SOMATIC
|
0.700 | CausalMutation | CLINVAR | ||||||||
NEVUS, EPIDERMAL (disorder)
|
0.700 | CausalMutation | CLINVAR | ||||||||
THYROID CANCER, NONMEDULLARY, 2
|
0.700 | CausalMutation | CLINVAR | ||||||||
Malignant neoplasm of urinary bladder
|
0.700 | CausalMutation | CLINVAR | ||||||||
Costello syndrome (disorder)
|
0.830 | GeneticVariation | UNIPROT | Germline mutations in HRAS proto-oncogene cause Costello syndrome. | 16170316 | 2005 | |||||
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 | GeneticVariation | UNIPROT | Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. | 16443854 | 2006 | |||||
Costello syndrome (disorder)
|
0.830 | GeneticVariation | UNIPROT | HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. | 16329078 | 2006 | |||||
Costello syndrome (disorder)
|
0.830 | CausalMutation | CLINVAR | HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. | 16329078 | 2006 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. | 16329078 | 2006 | |||||
Cardiac Arrhythmia
|
0.010 | GeneticVariation | BEFREE | The two patients with 35G --> C had cardiac arrhythmias whereas one patient with a 37G --> T transversion had an enlarged aortic root. | 16372351 | 2006 | |||||
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 | GeneticVariation | UNIPROT | Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. | 17054105 | 2007 | |||||
Thyroid Neoplasm
|
0.710 | CausalMutation | CLINVAR | Hyperactive Ras in developmental disorders and cancer. | 17384584 | 2007 | |||||
Thyroid Neoplasm
|
0.710 | CausalMutation | CLINVAR | Hyperactive Ras in developmental disorders and cancer. | 17384584 | 2007 | |||||
Costello syndrome (disorder)
|
0.830 | GeneticVariation | UNIPROT | Severe neonatal manifestations of Costello syndrome. | 18039947 | 2008 | |||||
Costello syndrome (disorder)
|
0.830 | CausalMutation | CLINVAR | Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. | 18042262 | 2008 |