Disease: Leopard Syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 GeneticVariation disease UNIPROT Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. 15389709 2004
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 GeneticVariation disease UNIPROT Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348 2002
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 GeneticVariation disease UNIPROT "PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""." 16733669 2006
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 GeneticVariation disease UNIPROT Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. 15690106 2005
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 GeneticVariation disease UNIPROT A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. 24891296 2014
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 GeneticVariation disease UNIPROT PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. 15520399 2004
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 GeneticVariation disease UNIPROT Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling. 26742426 2016
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 GeneticVariation disease UNIPROT Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. 15121796 2004
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 GeneticVariation disease UNIPROT Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). 16679933 2006
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 GeneticVariation disease UNIPROT A novel PTPN11 mutation in LEOPARD syndrome. 14961557 2003
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 28650561 2017
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. 14644997 2004
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND Clinical and molecular characterization of 40 patients with Noonan syndrome. 18678287 2009
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348 2002
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 Biomarker disease CTD_human Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. 15389709 2004
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 CausalMutation disease CLINVAR Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? 21340158 2010
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 CausalMutation disease CLINVAR Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia. 19509418 2009
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 CausalMutation disease CLINVAR Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 28650561 2017
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 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: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 CausalMutation disease CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665 2014
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 CausalMutation disease CLINVAR Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 27521173 2016
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 CausalMutation disease CLINVAR Lethal presentation of neurofibromatosis and Noonan syndrome. 21567923 2011