Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918454
rs121918454
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		G 0.710 CausalMutation CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665

2014
dbSNP: rs121918454
rs121918454
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		G 0.710 CausalMutation CLINVAR PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799

2008
dbSNP: rs121918454
rs121918454
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		G 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
dbSNP: rs121918454
rs121918454
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		G 0.710 CausalMutation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039

2005
dbSNP: rs121918454
rs121918454
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		G 0.710 CausalMutation CLINVAR Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218

2003
dbSNP: rs121918454
rs121918454
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		G 0.710 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
dbSNP: rs121918454
rs121918454
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		G 0.710 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001