Disease: Noonan Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507529
rs397507529
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260 2011
dbSNP: rs397507529
rs397507529
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Genotype differences in cognitive functioning in Noonan syndrome. 19077116 2009
dbSNP: rs397507529
rs397507529
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. 18372317 2008
dbSNP: rs397507529
rs397507529
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218 2006
dbSNP: rs397507529
rs397507529
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome. 15985475 2005
dbSNP: rs397507529
rs397507529
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. 14974085 2004
dbSNP: rs397507529
rs397507529
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation 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
dbSNP: rs397507529
rs397507529
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
dbSNP: rs397507529
rs397507529
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001