Disease: Noonan Syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR Lethal presentation of neurofibromatosis and Noonan syndrome. 21567923 2011
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 Biomarker disease GENOMICS_ENGLAND The RASopathies. 23875798 2013
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436 2003
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR SHP-2 and myeloid malignancies. 14676626 2004
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 GeneticVariation disease UNIPROT A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. 24891296 2014
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 Biomarker disease GENOMICS_ENGLAND Clinical and molecular characterization of 40 patients with Noonan syndrome. 18678287 2009
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR [Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation]. 17546245 2007
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR The role of Shp2 (PTPN11) in cancer. 17227708 2007
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 GeneticVariation disease UNIPROT Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218 2003
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. 16377799 2006
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 GeneticVariation disease BEFREE We surveyed 16 subjects with the clinical diagnosis of Noonan Syndrome (NS1) from 12 families and their relevant family members for mutations in PTPN11/SHP2 using direct DNA sequencing. 12325025 2002
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 Biomarker disease MGD Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation. 15273746 2004
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling. 22058153 2012
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR Use of human androgen receptor gene analysis to aid the diagnosis of JMML in female noonan syndrome patients. 18454468 2008
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 24767283 2014
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 GeneticVariation disease UNIPROT PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations. 16399795 2006
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 GeneticVariation disease UNIPROT A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy. 15889278 2005
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. 20308328 2010
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome. 17339163 2007
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469 2002
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. 26785492 2015
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. 15948193 2005
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. 17020470 2006
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR PTPN11 mutations in pediatric patients with acute myeloid leukemia: results from the Children's Cancer Group. 15385933 2004