Disease: Metachondromatosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 CausalMutation disease CLINVAR Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. 15987685 2005
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 CausalMutation disease CLINVAR Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. 14974085 2004
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 Biomarker disease GENOMICS_ENGLAND Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. 14644997 2004
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 CausalMutation disease CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 Biomarker disease CTD_human