RASA1, RAS p21 protein activator 1, 5921

N. diseases: 237; N. variants: 41
Disease: Costello syndrome (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.310 Biomarker disease BEFREE Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation. 19995790 2010
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.310 Biomarker disease CLINGEN