Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.410 Biomarker disease CTD_human We conclude that heterozygous loss-of-function mutations in PTPN11 are a frequent cause of MC, that lesions in patients with MC appear to arise following a "second hit," that MC may be locus heterogeneous since 1 familial and 5 sporadically occurring cases lacked obvious disease-causing PTPN11 mutations, and that PTPN11 mutations are not a common cause of Ollier disease or Maffucci syndrome. 21533187 2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.410 GeneticVariation disease BEFREE We conclude that heterozygous loss-of-function mutations in PTPN11 are a frequent cause of MC, that lesions in patients with MC appear to arise following a "second hit," that MC may be locus heterogeneous since 1 familial and 5 sporadically occurring cases lacked obvious disease-causing PTPN11 mutations, and that PTPN11 mutations are not a common cause of Ollier disease or Maffucci syndrome. 21533187 2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.410 Biomarker disease CTD_human Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. 20577567 2010
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.410 Biomarker disease HPO