Disease: Cardio-facio-cutaneous syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.330 GeneticVariation disease BEFREE One patient had a germline RAF1 mutation and a clinical diagnosis of cardio-facio-cutaneous syndrome. 26994902 2016
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.330 Biomarker disease CLINGEN Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder. 26918529 2016
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.330 GeneticVariation disease BEFREE Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options. 17981815 2008
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.330 Biomarker disease BEFREE Recently, we identified mutations in KRAS and BRAF in 19 of 43 individuals with CFC syndrome, suggesting that dysregulation of the RAS/RAF/MEK/ERK pathway is a molecular basis for CFC syndrome. 17366577 2007