rs397507529, PTPN11

N. diseases: 5
Disease: LEOPARD Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.710 CausalMutation CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260 2011
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.710 CausalMutation CLINVAR Genotype differences in cognitive functioning in Noonan syndrome. 19077116 2009
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.710 CausalMutation CLINVAR Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. 18372317 2008
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.710 GeneticVariation BEFREE Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. 18372317 2008
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.710 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218 2006
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.710 CausalMutation CLINVAR PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome. 15985475 2005
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.710 CausalMutation CLINVAR Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. 14974085 2004
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.710 CausalMutation CLINVAR Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. 12634870 2003
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.710 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.710 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001