KRAS, KRAS proto-oncogene, GTPase, 3845

N. diseases: 1213; N. variants: 54
Disease: Costello syndrome (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.600 GeneticVariation disease BEFREE Somatic KRAS mutations are often detected in patients with solid and non-solid tumors, whereas germline KRAS mutations are implicated in patients with the Noonan syndrome, cardio-facio-cutaneous (CFC) syndrome and Costello syndrome. 30012129 2018
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.600 GeneticVariation disease BEFREE Germline changes in the genes encoding members of the RAS subfamily of GTPases are rare and associated with variable phenotypes of the RASopathy spectrum, ranging from Costello syndrome (HRAS variants) to Noonan and Cardiofaciocutaneous syndromes (KRAS variants). 28594414 2017
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.600 GeneticVariation disease BEFREE Yet, the malignancy risk in CS is notably higher than in Noonan syndrome with a KRAS mutation. 26572961 2016
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.600 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) 		0.600 GeneticVariation disease BEFREE Germline KRAS mutations were shown recently to be associated with developmental disorders, including Noonan syndrome (NS), cardio-facio-cutaneous syndrome (CFCS), and Costello syndrome (CS). 20949621 2011
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.600 GeneticVariation disease BEFREE We identified four different missense mutations of HRAS in twenty-eight cases with CS (90.3%), while KRAS mutations were detected in two infants with a phenotype meeting criteria for CS (6.5%). 18042262 2008
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.600 GeneticVariation disease BEFREE We report on a novel KRAS gene mutation in a patient presenting the clinical features typical of Costello syndrome and the additional findings seen in Noonan syndrome. 17468812 2007
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.600 GeneticVariation disease BEFREE Remarkably, our cohort of individuals with KRAS mutations showed a high clinical variability, ranging from Noonan syndrome to CFC, and also included two patients who met the clinical criteria of Costello syndrome. 17056636 2007
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.600 GeneticVariation disease BEFREE Germ line missense mutations in HRAS and KRAS and in genes encoding molecules that function up- or downstream of Ras in cellular signaling networks cause a group of related developmental disorders that includes Costello syndrome, Noonan syndrome, and cardiofaciocutaneous syndrome. 17875937 2007
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.600 Biomarker disease CTD_human We report on a novel KRAS gene mutation in a patient presenting the clinical features typical of Costello syndrome and the additional findings seen in Noonan syndrome. 17468812 2007
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.600 Biomarker disease CLINGEN Remarkably, our cohort of individuals with KRAS mutations showed a high clinical variability, ranging from Noonan syndrome to CFC, and also included two patients who met the clinical criteria of Costello syndrome. 17056636 2007
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.600 GeneticVariation disease BEFREE We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene). 17324647 2007
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.600 Biomarker disease CTD_human Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency. 17703371 2007
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.600 Biomarker disease CLINGEN We report on a novel KRAS gene mutation in a patient presenting the clinical features typical of Costello syndrome and the additional findings seen in Noonan syndrome. 17468812 2007
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.600 Biomarker disease CLINGEN Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. 16773572 2006