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 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 GENOMICS_ENGLAND Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. 15389709 2004