RRAS2, RAS related 2, 22800

N. diseases: 48; N. variants: 4
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 		0.620 Biomarker disease CLINGEN We show that the NS-causing RRAS2 variants affect highly conserved residues localized around the nucleotide binding pocket of the GTPase and are predicted to variably affect diverse aspects of RRAS2 biochemical behavior, including nucleotide binding, GTP hydrolysis, and interaction with effectors. 31130282 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.620 Biomarker disease CLINGEN Here, we report four de novo RRAS2 variants in three individuals with NS. 31130285 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.620 GeneticVariation disease BEFREE Here, we report four de novo RRAS2 variants in three individuals with NS. 31130285 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.620 GeneticVariation disease BEFREE We show that the NS-causing RRAS2 variants affect highly conserved residues localized around the nucleotide binding pocket of the GTPase and are predicted to variably affect diverse aspects of RRAS2 biochemical behavior, including nucleotide binding, GTP hydrolysis, and interaction with effectors. 31130282 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.620 GermlineCausalMutation disease ORPHANET Here, we report four de novo RRAS2 variants in three individuals with NS. 31130285 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.620 Biomarker disease GENOMICS_ENGLAND Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis. 24705357 2014