Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Gastric Adenocarcinoma
|
0.700 | GeneticVariation | CLINVAR | Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | 26619011 | 2016 | |||||
Chronic Lymphocytic Leukemia
|
0.700 | GeneticVariation | CLINVAR | Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | 26619011 | 2016 | |||||
Adenocarcinoma of lung (disorder)
|
0.700 | GeneticVariation | CLINVAR | Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | 26619011 | 2016 | |||||
Cutaneous Melanoma
|
0.700 | GeneticVariation | CLINVAR | Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | 26619011 | 2016 | |||||
Thyroid Neoplasm
|
0.700 | GeneticVariation | CLINVAR | Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | 26619011 | 2016 | |||||
Malignant Uterine Corpus Neoplasm
|
0.700 | GeneticVariation | CLINVAR | Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | 26619011 | 2016 | |||||
Adenocarcinoma of prostate
|
0.700 | GeneticVariation | CLINVAR | Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | 26619011 | 2016 | |||||
Cardio-facio-cutaneous syndrome
|
0.700 | CausalMutation | CLINVAR | Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. | 24451042 | 2014 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. | 24451042 | 2014 | |||||
melanoma
|
0.700 | GeneticVariation | CLINVAR | Phase II study of the MEK1/MEK2 inhibitor Trametinib in patients with metastatic BRAF-mutant cutaneous melanoma previously treated with or without a BRAF inhibitor. | 23248257 | 2013 | |||||
Cardio-facio-cutaneous syndrome
|
0.700 | CausalMutation | CLINVAR | Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey. | 22495831 | 2012 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey. | 22495831 | 2012 | |||||
Cardio-facio-cutaneous syndrome
|
0.700 | CausalMutation | CLINVAR | Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. | 19206169 | 2009 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. | 19206169 | 2009 | |||||
Cardio-facio-cutaneous syndrome
|
0.700 | GeneticVariation | CLINVAR |