XYLT2, xylosyltransferase 2, 64132

N. diseases: 138; N. variants: 7
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 		0.020 GeneticVariation disease BEFREE In this study, we examined three NS mutations in different domains of SOS to clarify the abnormality in its translocation to the plasma membrane, where SOS activates RAS. 29074966 2017
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.020 GeneticVariation disease BEFREE The more frequent molecular defects observed in NS were mutations in the PTPN11 and SOS genes. 23756559 2013