Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.110 GeneticVariation disease BEFREE Patients with severe ptosis and nearly total absence of levator muscle function had PTPN11 mutations. 27521173 2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.110 CausalMutation disease CLINVAR Genotype differences in cognitive functioning in Noonan syndrome. 19077116 2009
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.110 CausalMutation disease CLINVAR Noonan syndrome and related disorders: genetics and pathogenesis. 16124853 2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.110 CausalMutation disease CLINVAR Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218 2003
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.110 CausalMutation disease CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.110 Biomarker disease HPO