rs121918459, PTPN11

N. diseases: 47
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 CausalMutation CLINVAR
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.720 CausalMutation CLINVAR MAPK activation in mature cataract associated with Noonan syndrome. 24219368 2013
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.720 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
0.720 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
0.720 CausalMutation CLINVAR We herein report a large family demonstrating NS caused by one of the common PTPN11 mutations, c.188 A > G (Y63C). 16498234 2006
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.720 CausalMutation CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260 2011
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.720 CausalMutation CLINVAR Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations. 17497712 2007
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.720 CausalMutation CLINVAR Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. 14644997 2004
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.720 CausalMutation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469 2002
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.720 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
0.720 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
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.720 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.720 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.720 CausalMutation CLINVAR Clinical and molecular analysis of RASopathies in a group of Turkish patients. 22420426 2013
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
0.700 CausalMutation CLINVAR
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
0.700 CausalMutation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469 2002
Congenital stenosis of pulmonary valve
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
0.700 CausalMutation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469 2002
Congenital stenosis of pulmonary valve
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
0.700 CausalMutation CLINVAR Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome. 22711529 2012
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR
Congenital insufficiency of pulmonary valve
CUI: C0265833
Disease: Congenital insufficiency of pulmonary valve
0.700 CausalMutation CLINVAR Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome. 22711529 2012
Strawberry nevus of skin
CUI: C0206733
Disease: Strawberry nevus of skin
0.700 CausalMutation CLINVAR
Postnatal growth retardation
CUI: C1859778
Disease: Postnatal growth retardation
0.700 CausalMutation CLINVAR
Myalgia
CUI: C0231528
Disease: Myalgia
0.700 CausalMutation CLINVAR
Congenital stenosis of pulmonary valve
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
0.700 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001