Source: ALL
| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | 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 | Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. | 11704759 | 2001 | ||||
|
0.010 | GeneticVariation | disease | BEFREE | α-Galactosidase A genotype N215S does not lead to the development of a classical Fabry phenotype but induces a specific cardiac variant of Fabry disease mimicking nonobstructive hypertrophic cardiomyopathy. | 29018006 | 2017 | ||||
|
0.010 | GeneticVariation | disease | BEFREE | Significance of plasma levels of N-terminal Pro-B-type natriuretic peptide on left ventricular remodeling in non-obstructive hypertrophic cardiomyopathy attributable to the Asp175Asn mutation in the alpha-tropomyosin gene. | 18394456 | 2008 |