Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 22800
Gene Symbol: RRAS2
RRAS2
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.620 Biomarker 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
Entrez Id: 22800
Gene Symbol: RRAS2
RRAS2
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.620 Biomarker CLINGEN Here, we report four de novo RRAS2 variants in three individuals with NS. 31130285

2019