Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.910 | Biomarker | disease | BEFREE | Furthermore, the SUMOylation of NS5 significantly increased the stability of NS5 protein, which could account for most of the biological functions of SUMOylated NS5. | 26889037 | 2016 | ||||
|
0.910 | Biomarker | disease | GENOMICS_ENGLAND | The RASopathies. | 23875798 | 2013 | ||||
|
0.910 | Biomarker | disease | MGD | Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants. | 22826437 | 2012 | ||||
|
0.910 | Biomarker | disease | MGD | MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation. | 21339642 | 2011 | ||||
|
0.910 | GeneticVariation | disease | UNIPROT | Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. | 20683980 | 2010 | ||||
|
0.910 | GeneticVariation | disease | UNIPROT | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 | ||||
|
0.910 | Biomarker | disease | GENOMICS_ENGLAND | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 | ||||
|
0.910 | GeneticVariation | disease | UNIPROT | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 | ||||
|
0.910 | Biomarker | disease | GENOMICS_ENGLAND | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 | ||||
|
0.910 | GeneticVariation | disease | CLINVAR | |||||||
|
0.910 | CausalMutation | disease | CLINVAR | |||||||
|
0.910 | Biomarker | disease | CTD_human |