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 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 Biomarker disease CLINGEN The RASopathies. 23875798 2013
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 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 Biomarker disease CLINGEN A restricted spectrum of NRAS mutations causes Noonan syndrome. 19966803 2010
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.500 Biomarker disease CLINGEN Genotype and phenotype spectrum of NRAS germline variants. 28594414 2017
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.500 Biomarker disease CLINGEN The RASopathies. 23875798 2013
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.300 Biomarker disease CLINGEN Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia. 22887781 2012
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.300 Biomarker disease CLINGEN The RASopathies. 23875798 2013
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.300 Biomarker disease CLINGEN Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia. 19775298 2009
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.300 Biomarker disease CLINGEN Mutation in NRAS in familial Noonan syndrome--case report and review of the literature. 26467218 2015
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.300 Biomarker disease CLINGEN Genotype and phenotype spectrum of NRAS germline variants. 28594414 2017
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.300 Biomarker disease CLINGEN The RASopathies. 23875798 2013
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.300 Biomarker disease CLINGEN
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.300 Biomarker disease CLINGEN
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 Biomarker disease GENOMICS_ENGLAND
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 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 Biomarker disease GENOMICS_ENGLAND The RASopathies. 23875798 2013
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.780 Biomarker disease GENOMICS_ENGLAND
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: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.700 Biomarker disease GENOMICS_ENGLAND Trend of mortality from cancer of the breast. 5896945 1965
CUI: C2750732
Disease: Noonan Syndrome 6
Noonan Syndrome 6 		0.700 Biomarker disease GENOMICS_ENGLAND Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia. 19775298 2009
CUI: C2750732
Disease: Noonan Syndrome 6
Noonan Syndrome 6 		0.700 Biomarker disease GENOMICS_ENGLAND A restricted spectrum of NRAS mutations causes Noonan syndrome. 19966803 2010
CUI: C2750732
Disease: Noonan Syndrome 6
Noonan Syndrome 6 		0.700 Biomarker disease GENOMICS_ENGLAND The RASopathies. 23875798 2013