rs121918454, PTPN11

N. diseases: 17
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 Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665 2014
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 CausalMutation CLINVAR PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799 2008
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198 2007
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 PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome. 15956085 2005
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 CausalMutation CLINVAR Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218 2003
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
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001