Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
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0.300 | Biomarker | CLINGEN | Mutation in NRAS in familial Noonan syndrome--case report and review of the literature. | 26467218 | 2015 |
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0.300 | Biomarker | CLINGEN | The RASopathies. | 23875798 | 2013 |
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0.300 | Biomarker | CLINGEN | Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia. | 22887781 | 2012 |
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0.300 | Biomarker | CLINGEN | Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia. | 19775298 | 2009 |
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0.300 | Biomarker | CLINGEN | |||||||||||
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0.300 | Biomarker | CLINGEN | |||||||||||
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0.300 | Biomarker | CLINGEN | |||||||||||
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0.300 | Biomarker | CLINGEN | |||||||||||
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0.300 | Biomarker | CLINGEN | |||||||||||
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0.300 | Biomarker | CLINGEN | |||||||||||
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0.300 | Biomarker | CLINGEN | |||||||||||
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0.300 | Biomarker | CLINGEN | |||||||||||
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0.300 | Biomarker | CLINGEN | |||||||||||
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0.300 | Biomarker | CLINGEN | |||||||||||
|
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0.310 | Biomarker | CLINGEN | |||||||||||
|
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0.310 | Biomarker | CLINGEN | |||||||||||
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0.310 | Biomarker | CLINGEN | |||||||||||
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0.330 | Biomarker | CLINGEN | |||||||||||
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0.520 | Biomarker | CLINGEN | This may be the first patient clinically diagnosed with NSML, caused by a mutation in MAP2K1. | 25423878 | 2015 |
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0.520 | Biomarker | CLINGEN | The RASopathies. | 23875798 | 2013 |
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0.650 | Biomarker | CLINGEN | LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. | 24775816 | 2013 |
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0.650 | Biomarker | CLINGEN | The RASopathies. | 23875798 | 2013 |
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0.650 | Biomarker | CLINGEN | Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy. | 22465605 | 2012 |
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0.650 | Biomarker | CLINGEN | We report on a patient with LEOPARD syndrome and normal intelligence who was found to carry a novel sequence change in BRAF. | 19416762 | 2009 |
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0.650 | Biomarker | CLINGEN | Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. | 19206169 | 2009 |