Noonan Syndrome
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Noonan Syndrome
|
0.780 |
GermlineCausalMutation
|
disease |
ORPHANET |
A restricted spectrum of NRAS mutations causes Noonan syndrome.
|
19966803 |
2010 |
Noonan Syndrome
|
0.780 |
Biomarker
|
disease |
CTD_human |
A restricted spectrum of NRAS mutations causes Noonan syndrome.
|
19966803 |
2010 |
Noonan Syndrome
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A restricted spectrum of NRAS mutations causes Noonan syndrome.
|
19966803 |
2010 |
Noonan Syndrome
|
0.780 |
Biomarker
|
disease |
CLINGEN |
A restricted spectrum of NRAS mutations causes Noonan syndrome.
|
19966803 |
2010 |
Noonan Syndrome
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
A restricted spectrum of NRAS mutations causes Noonan syndrome.
|
19966803 |
2010 |
Noonan Syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
A restricted spectrum of NRAS mutations causes Noonan syndrome.
|
19966803 |
2010 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Noonan Syndrome
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Hyperactive Ras in developmental disorders and cancer.
|
17384584 |
2007 |
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 |
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 |
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 |
Noonan Syndrome
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Juvenile myelomonocytic leukemia and Noonan syndrome.
|
10598665 |
2000 |
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 |
Noonan Syndrome
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies.
|
16518851 |
2006 |
Noonan Syndrome
|
0.780 |
Biomarker
|
disease |
CLINGEN |
Our results confirm that a small proportion of Noonan syndrome patients carry germline NRAS mutations.
|
22855653 |
2012 |
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 |
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 |
Noonan Syndrome
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Repressible transgenic model of NRAS oncogene-driven mast cell disease in the mouse.
|
15831708 |
2005 |