NRAS, NRAS proto-oncogene, GTPase, 4893

N. diseases: 611; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 Biomarker disease GENOMICS_ENGLAND
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 GermlineCausalMutation disease ORPHANET A restricted spectrum of NRAS mutations causes Noonan syndrome. 19966803 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 Biomarker disease CTD_human A restricted spectrum of NRAS mutations causes Noonan syndrome. 19966803 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 Biomarker disease GENOMICS_ENGLAND A restricted spectrum of NRAS mutations causes Noonan syndrome. 19966803 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 Biomarker disease CLINGEN A restricted spectrum of NRAS mutations causes Noonan syndrome. 19966803 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 CausalMutation disease CLINVAR A restricted spectrum of NRAS mutations causes Noonan syndrome. 19966803 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 GeneticVariation disease BEFREE A restricted spectrum of NRAS mutations causes Noonan syndrome. 19966803 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 Biomarker disease CLINGEN Affected individuals exhibited features fitting Noonan syndrome, and the observed germline variants differed from the typical oncogenic NRAS changes occurring as somatic events in tumours. 28594414 2017
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 CausalMutation disease CLINVAR Constitutive activation of the Ras-Raf signaling pathway in metastatic melanoma is associated with poor prognosis. 15046639 2004
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 CausalMutation disease CLINVAR Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia. 19047918 2009
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 GeneticVariation disease BEFREE Gene-related Chinese NS facial features were described using artificial intelligence (AI).NGS identified pathogenic variants in 103 Chinese patients in eight NS-related genes: PTPN11 (48.5%), SOS1 (12.6%), SHOC2 (11.7%), KRAS (9.71%), RAF1 (7.77%), RIT1 (6.8%), CBL (0.97%), NRAS (0.97%), and LZTR1 (0.97%). 31219622 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 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
0.780 Biomarker disease GENOMICS_ENGLAND Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia. 19775298 2009
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 Biomarker disease BEFREE Germline mutations in genes encoding small GTPases of the RAS family (KRAS and NRAS), modulators of RAS function (PTPN11, SOS1 and SHOC2) or downstream signal transducers (RAF1) are causative for NS. 20673819 2011
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 CausalMutation disease CLINVAR Hyperactive Ras in developmental disorders and cancer. 17384584 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 CausalMutation disease CLINVAR In conclusion, mutations in NRAS from individuals with Noonan syndrome activated N-Ras signaling and induced developmental defects in zebrafish embryos, indicating that activating mutations in NRAS cause Noonan syndrome. 21263000 2011
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 GeneticVariation disease BEFREE In conclusion, mutations in NRAS from individuals with Noonan syndrome activated N-Ras signaling and induced developmental defects in zebrafish embryos, indicating that activating mutations in NRAS cause Noonan syndrome. 21263000 2011
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 Biomarker disease CLINGEN In conclusion, mutations in NRAS from individuals with Noonan syndrome activated N-Ras signaling and induced developmental defects in zebrafish embryos, indicating that activating mutations in NRAS cause Noonan syndrome. 21263000 2011
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 CausalMutation disease CLINVAR Juvenile myelomonocytic leukemia and Noonan syndrome. 10598665 2000
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 Biomarker disease GENOMICS_ENGLAND Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. 24006476 2014
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 CausalMutation disease CLINVAR Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies. 16518851 2006
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 Biomarker disease CLINGEN Our results confirm that a small proportion of Noonan syndrome patients carry germline NRAS mutations. 22855653 2012
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 CausalMutation disease CLINVAR RAS oncogene suppression induces apoptosis followed by more differentiated and less myelosuppressive disease upon relapse of acute myeloid leukemia. 18952898 2009
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 GeneticVariation disease BEFREE RASopathies (Noonan syndrome (NS) and Noonan-related syndromes) are neurodevelopmental syndromes resulting from germline mutations in genes that participate in the rat sarcoma/mitogen-activated protein kinases (RAS/MAPK) pathway (PTPN11, SOS1, RAF, KRAS or NRAS, and SHOC2). 23786871 2013
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.780 CausalMutation disease CLINVAR Repressible transgenic model of NRAS oncogene-driven mast cell disease in the mouse. 15831708 2005