Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
0.540 GeneticVariation disease BEFREE None of the patients of our series with CFC syndrome (with germline BRAF or MAP2K1/MAP2K2 mutation - n = 121) or Costello syndrome (with HRAS mutation - n = 35) had an ALL. 26855057 2016
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
0.540 GeneticVariation disease BEFREE PTPN11 (39.0%), SOS1 (20.3%), RAF1 (6.8%), KRAS (5.1%), and BRAF (1.7%) mutations were identified in NS; BRAF (41.2%), SHOC2 (23.5%), and MEK1 (5.9%) mutations in cardiofaciocutaneous syndrome; and HRAS and PTPN11 mutations in Costello syndrome and LEOPARD syndrome, respectively. 21784453 2011
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
0.540 GeneticVariation disease BEFREE Features considered distinctive for CS were also found to be associated with BRAF or MEK mutations. 17704260 2007
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
0.540 Biomarker disease CTD_human Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency. 17703371 2007
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
0.540 GeneticVariation disease BEFREE Mutations in the RAS-MAPK pathway have recently been reported in both of these syndromes, with HRAS mutations characteristic for CS and BRAF and MEK1/2 mutations for CFC. 17567882 2007
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
0.540 Biomarker disease CLINGEN Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype. 16804887 2006