Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation CLINVAR Genotype differences in cognitive functioning in Noonan syndrome. 19077116

2009
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation CLINVAR Noonan syndrome and related disorders: genetics and pathogenesis. 16124853

2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation CLINVAR Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218

2003
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001