Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome
0.200 Biomarker disease MGD Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants. 22826437 2012
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome
0.200 Biomarker disease MGD MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation. 21339642 2011