KRAS, KRAS proto-oncogene, GTPase, 3845

N. diseases: 1213; N. variants: 54
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.600 CausalMutation disease CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665 2014
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND The RASopathies. 23875798 2013
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.600 GeneticVariation disease UNIPROT Two novel germline KRAS mutations: expanding the molecular and clinical phenotype. 21797849 2012
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis. 22488932 2012
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND Noonan syndrome and clinically related disorders. 21396583 2011
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.600 CausalMutation disease CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621 2011
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.600 GeneticVariation disease UNIPROT Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621 2011
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene. 17468812 2007
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.600 GeneticVariation disease UNIPROT Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636 2007
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features. 17601930 2007
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.600 CausalMutation disease CLINVAR Germline KRAS mutations cause Noonan syndrome. 16474405 2006
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.600 GeneticVariation disease UNIPROT Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404 2006
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.600 GeneticVariation disease UNIPROT Germline KRAS mutations cause Noonan syndrome. 16474405 2006
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.600 GeneticVariation disease CLINVAR