| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Noonan Syndrome 5
|
0.800 | GeneticVariation | UNIPROT | Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. | 20683980 | 2010 | |||||
Noonan Syndrome 5
|
0.800 | GeneticVariation | UNIPROT | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 | |||||
Noonan Syndrome 5
|
0.800 | GeneticVariation | UNIPROT | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 | |||||
LEOPARD SYNDROME 2
|
0.800 | GeneticVariation | UNIPROT | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 | |||||
LEOPARD SYNDROME 2
|
0.800 | CausalMutation | CLINVAR | ||||||||
Noonan Syndrome 5
|
0.800 | CausalMutation | CLINVAR | ||||||||
Hypertrophic Cardiomyopathy
|
0.710 | GeneticVariation | BEFREE | So we first reported a single mutant of RAF1 770C>T with idiopathic HCM in a very early age. | 27631234 | 2016 | |||||
Hypertrophic Cardiomyopathy
|
0.710 | CausalMutation | CLINVAR | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 | |||||
Hypertrophic Cardiomyopathy
|
0.710 | CausalMutation | CLINVAR | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. | 29493581 | 2018 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders. | 29084544 | 2017 | |||||
Cutaneous Melanoma
|
0.700 | GeneticVariation | CLINVAR | Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | 26619011 | 2016 | |||||
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 | |||||
Adenocarcinoma of lung (disorder)
|
0.700 | GeneticVariation | CLINVAR | Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | 26619011 | 2016 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Growth patterns of patients with Noonan syndrome: correlation with age and genotype. | 26903553 | 2016 | |||||
Gastric Adenocarcinoma
|
0.700 | GeneticVariation | CLINVAR | Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | 26619011 | 2016 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Recent advances in RASopathies. | 26446362 | 2016 | |||||
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 | |||||
Gastric Adenocarcinoma
|
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 | |||||
Adenocarcinoma of lung (disorder)
|
0.700 | GeneticVariation | CLINVAR | Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | 26619011 | 2016 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Recent advances in RASopathies. | 26446362 | 2016 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Growth patterns of patients with Noonan syndrome: correlation with age and genotype. | 26903553 | 2016 |