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 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
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 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 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 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 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 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