rs121918460, PTPN11

N. diseases: 27
Disease: Noonan Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 CausalMutation CLINVAR Here, we characterized functionally all possible amino acid substitutions arising from single-base changes affecting codons 62 and 63 to explore the molecular mechanisms lying behind the largely invariant occurrence of the Y62D and Y63C substitutions recurring in Noonan syndrome. 22711529 2012
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 GeneticVariation BEFREE Here, we characterized functionally all possible amino acid substitutions arising from single-base changes affecting codons 62 and 63 to explore the molecular mechanisms lying behind the largely invariant occurrence of the Y62D and Y63C substitutions recurring in Noonan syndrome. 22711529 2012
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 CausalMutation CLINVAR SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions. 19352411 2009
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218 2006
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 CausalMutation CLINVAR PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. 17020470 2006
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 CausalMutation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039 2005
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436 2003
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. 12325025 2002
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002