| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.100 | CausalMutation | disease | 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 | ||||
|
0.100 | CausalMutation | disease | CLINVAR | Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome. | 17641779 | 2007 | ||||
|
0.100 | CausalMutation | disease | CLINVAR | Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. | 16358218 | 2006 | ||||
|
0.100 | CausalMutation | disease | CLINVAR | PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. | 17020470 | 2006 | ||||
|
0.100 | CausalMutation | disease | CLINVAR | Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1/2 signaling. | 16166557 | 2005 | ||||
|
0.100 | CausalMutation | disease | CLINVAR | Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia. | 15834506 | 2005 | ||||
|
0.100 | CausalMutation | disease | 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 | ||||
|
0.100 | CausalMutation | disease | CLINVAR | PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. | 11992261 | 2002 | ||||
|
0.100 | CausalMutation | disease | CLINVAR | PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. | 12161469 | 2002 | ||||
|
0.100 | CausalMutation | disease | CLINVAR | Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. | 11704759 | 2001 |