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 CausalMutation disease CLINVAR 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 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 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 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 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 A novel PTPN11 mutation in LEOPARD syndrome. 14961557 2003
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 CausalMutation disease CLINVAR Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. 14974085 2004
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 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 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 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 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 CausalMutation disease CLINVAR Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. 15987685 2005
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 CausalMutation disease CLINVAR Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations. 16399795 2006
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 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 CausalMutation disease CLINVAR Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation. 18253957 2008
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 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 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 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 Lethal presentation of neurofibromatosis and Noonan syndrome. 21567923 2011
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 CausalMutation disease CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260 2011