Disease: Noonan Syndrome 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		0.910 GeneticVariation disease CLINVAR
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		0.910 CausalMutation disease CLINVAR
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		0.910 Biomarker disease CTD_human
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		0.910 GeneticVariation disease UNIPROT Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		0.910 Biomarker disease GENOMICS_ENGLAND Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		0.910 GeneticVariation disease UNIPROT Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		0.910 Biomarker disease GENOMICS_ENGLAND Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		0.910 GeneticVariation disease UNIPROT Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. 20683980 2010
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		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
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		0.910 Biomarker disease MGD Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants. 22826437 2012
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		0.910 Biomarker disease GENOMICS_ENGLAND The RASopathies. 23875798 2013
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		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