| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Organoid Nevus Phakomatosis
|
0.720 | CausalMutation | CLINVAR | ||||||||
THYROID CANCER, NONMEDULLARY, 2
|
0.700 | CausalMutation | CLINVAR | ||||||||
Malignant neoplasm of urinary bladder
|
0.700 | CausalMutation | CLINVAR | ||||||||
Carcinoma of bladder
|
0.700 | GeneticVariation | UNIPROT | ||||||||
Nevus sebaceous
|
0.700 | CausalMutation | CLINVAR | ||||||||
NEVUS, EPIDERMAL (disorder)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Malignant neoplasm of urinary bladder
|
0.700 | CausalMutation | CLINVAR | ||||||||
NEVUS, EPIDERMAL (disorder)
|
0.700 | CausalMutation | CLINVAR | ||||||||
COSTELLO SYNDROME, SEVERE
|
0.700 | CausalMutation | CLINVAR | ||||||||
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
|
0.700 | CausalMutation | CLINVAR | ||||||||
GIANT PIGMENTED HAIRY NEVUS
|
0.700 | CausalMutation | CLINVAR | ||||||||
Nevus Sebaceus of Jadassohn
|
0.700 | CausalMutation | CLINVAR | ||||||||
Costello syndrome (disorder)
|
0.840 | CausalMutation | CLINVAR | Carcinogen-induced mutations in the mouse c-Ha-ras gene provide evidence of multiple pathways for tumor progression. | 2105486 | 1990 | |||||
Colorectal Carcinoma
|
0.010 | GeneticVariation | BEFREE | Recent evidence associates the codon 12 valine-for-glycine (G12V) mutant Ki-Ras protein with higher stage and increased lethality of colorectal carcinomas, while the codon 12 aspartate-for-glycine (G12D) Ras mutation shows no such association. | 10398103 | 1999 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Further delineation of cardiac abnormalities in Costello syndrome. | 12210337 | 2002 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Costello syndrome and neurological abnormalities. | 14608654 | 2003 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene. | 16155195 | 2006 | |||||
Costello syndrome (disorder)
|
0.840 | CausalMutation | CLINVAR | Germline mutations in HRAS proto-oncogene cause Costello syndrome. | 16170316 | 2005 | |||||
Costello syndrome (disorder)
|
0.840 | CausalMutation | CLINVAR | Germline mutations in HRAS proto-oncogene cause Costello syndrome. | 16170316 | 2005 | |||||
Costello syndrome (disorder)
|
0.840 | GeneticVariation | UNIPROT | Germline mutations in HRAS proto-oncogene cause Costello syndrome. | 16170316 | 2005 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Germline mutations in HRAS proto-oncogene cause Costello syndrome. | 16170316 | 2005 | |||||
Costello syndrome (disorder)
|
0.840 | GeneticVariation | UNIPROT | 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)
|
0.840 | GeneticVariation | UNIPROT | Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. | 16443854 | 2006 | |||||
Costello syndrome (disorder)
|
0.840 | CausalMutation | CLINVAR | Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. | 16443854 | 2006 |