NRAS, NRAS proto-oncogene, GTPase, 4893

N. diseases: 611; N. variants: 17
Disease: Noonan Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.780 Biomarker disease CLINGEN The RASopathies. 23875798 2013
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.780 Biomarker disease GENOMICS_ENGLAND The RASopathies. 23875798 2013
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.780 Biomarker disease BEFREE This demonstrates a predisposition to hyperpigmented lesions in NRAS-positive NS individuals. 26467218 2015
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.780 GeneticVariation disease BEFREE We report on the mutational analysis of NRAS in a cohort of 125 French patients with NS and no known mutation for PTPN11, KRAS, SOS1, MEK1, MEK2, RAF1, BRAF, and SHOC2. 22887781 2012
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.780 Biomarker disease BEFREE While the underlying pathophysiologic mechanism of PIG is unclear, we suggest that the mitogen-activated protein kinase signal transduction pathway members (PTPN11, KRAS, SOS1, RAF1, SHOC2, NRAS) involved in cellular growth factor signaling, which are affected in NS, can provide clues. 24039098 2014