Disease: Global developmental delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation disease BEFREE Normal stature was frequent in SOS1 mutations, hypertrophic cardiomyopathy in RAF1, and developmental delay in RAF1, BRAF, or SHOC2 mutations. 21784453 2011
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 CausalMutation disease CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 CausalMutation disease CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO