KRAS, KRAS proto-oncogene, GTPase, 3845

N. diseases: 1213; N. variants: 54
Disease: Noonan Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease CLINVAR Effector domain mutations dissociate p21ras effector function and GTPase-activating protein interaction. 8246952 1993
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease CLINVAR Probing the role of loop 2 in Ras function with unnatural amino acids. 8234268 1993
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Concurrent mutations of K-ras oncogene at codons 12 and 22 in colon cancer. 12110640 2002
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia. 14982869 2004
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR These studies establish germline KRAS mutations as a cause of human disease and infer that the constellation of developmental abnormalities seen in Noonan syndrome spectrum is, in large part, due to hyperactive Ras. 16474405 2006
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404 2006
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease LHGDN These studies establish germline KRAS mutations as a cause of human disease and infer that the constellation of developmental abnormalities seen in Noonan syndrome spectrum is, in large part, due to hyperactive Ras. 16474405 2006
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders. 16921267 2006
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease CLINVAR These studies establish germline KRAS mutations as a cause of human disease and infer that the constellation of developmental abnormalities seen in Noonan syndrome spectrum is, in large part, due to hyperactive Ras. 16474405 2006
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease CLINVAR Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. 16773572 2006
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker disease CLINGEN These studies establish germline KRAS mutations as a cause of human disease and infer that the constellation of developmental abnormalities seen in Noonan syndrome spectrum is, in large part, due to hyperactive Ras. 16474405 2006
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GermlineCausalMutation disease ORPHANET Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. 16773572 2006
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404 2006
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. 16773572 2006
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE These studies establish germline KRAS mutations as a cause of human disease and infer that the constellation of developmental abnormalities seen in Noonan syndrome spectrum is, in large part, due to hyperactive Ras. 16474405 2006
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE The discovery of KRAS missense mutation as a minor cause of Noonan syndrome and the pathogenetic mechanisms of those mutants is discussed. 16987887 2006
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. 16773572 2006
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker disease CLINGEN Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. 16773572 2006
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE Increased RAS-mitogen-activated protein kinase (MAPK) signaling due to PTPN11 and KRAS mutations causes 50% of cases of Noonan syndrome. 17143282 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. 17222357 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 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: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE Noonan syndrome-associated mutations V14I and T58I K-Ras activate Ras but have milder biochemical effects than somatic mutations encountered in cancers, offering an explanation why these K-Ras lesions are tolerated during embryonic development. 17211612 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE We further defined the phenotypic spectrum associated with KRAS missense mutations and provided the first evidence of clinical differences in patients with KRAS mutations compared with Noonan syndrome affected individuals with heterozygous PTPN11 mutations and CFC patients carrying a BRAF, MEK1 or MEK1 alteration, respectively. 17056636 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Congenital ulcerating hemangioma in a baby with KRAS mutation and cardio-facio-cutaneous syndrome. 17551339 2007