| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Adenocarcinoma of lung (disorder)
|
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 | |||||
Cardiac Hypertrophy
|
0.700 | CausalMutation | CLINVAR | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 | |||||
Cardiac Hypertrophy
|
0.700 | CausalMutation | CLINVAR | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 | |||||
CARDIOMYOPATHY, DILATED, 1NN
|
0.700 | CausalMutation | CLINVAR | ||||||||
Colorectal Neoplasms
|
0.700 | GeneticVariation | CLINVAR | Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | 26619011 | 2016 | |||||
Colorectal Neoplasms
|
0.700 | GeneticVariation | CLINVAR | Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | 26619011 | 2016 | |||||
Curly hair (finding)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Cutaneous Melanoma
|
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 | |||||
Depressed nasal bridge
|
0.700 | CausalMutation | CLINVAR | ||||||||
Disorders of both mitral and tricuspid valves
|
0.700 | CausalMutation | CLINVAR | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 | |||||
Disorders of both mitral and tricuspid valves
|
0.700 | CausalMutation | CLINVAR | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 | |||||
Downward slant of palpebral fissure
|
0.700 | CausalMutation | CLINVAR | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 | |||||
Downward slant of palpebral fissure
|
0.700 | CausalMutation | CLINVAR | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | RAF1 mutations in childhood-onset dilated cardiomyopathy. | 24777450 | 2014 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation. | 23877478 | 2014 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Recent advances in RASopathies. | 26446362 | 2016 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Growth patterns of patients with Noonan syndrome: correlation with age and genotype. | 26903553 | 2016 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Noonan syndrome and clinically related disorders. | 21396583 | 2011 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. | 21784453 | 2011 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants. | 22826437 | 2012 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association. | 19437094 | 2009 |