| 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 | 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). | 25173338 | 2014 | |||||
Retinal Dystrophies
|
0.010 | GeneticVariation | BEFREE | Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation. | 28337834 | 2017 | |||||
Trichoepithelioma
|
0.010 | GeneticVariation | BEFREE | A multigene hotspot mutational profiling of the BRAF, NRAS, HRAS and KRAS genes was carried out, and a shared G13R HRAS mutation in both the trichoblastoma and the sebaceous nevus components was found. | 28554764 | 2017 | |||||
Costello syndrome (disorder)
|
0.830 | CausalMutation | CLINVAR | A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. | 23093928 | 2012 | |||||
Malignant Neoplasms
|
0.010 | GeneticVariation | BEFREE | Although some individuals with HRAS p.Gly13Asp developed papillomata and vascular proliferation lesions, no malignant tumors occurred, similar to what was reported for individuals harboring the HRAS p.Gly13Cys. | 28371260 | 2017 | |||||
Costello syndrome (disorder)
|
0.830 | CausalMutation | CLINVAR | An unexpected new role of mutant Ras: perturbation of human embryonic development. | 17211612 | 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 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. | 29493581 | 2018 | |||||
Costello syndrome (disorder)
|
0.830 | GeneticVariation | UNIPROT | Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype? | 18247425 | 2008 | |||||
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 | |||||
Costello syndrome (disorder)
|
0.830 | GeneticVariation | UNIPROT | Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation. | 19995790 | 2010 | |||||
Dwarfism
|
0.010 | GeneticVariation | BEFREE | Fewer individuals with p.G13C had short stature (height below -2 SD) without use of growth hormone (P < 0.001). | 21438134 | 2011 |