Disease: Noonan Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918456
rs121918456
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.710 CausalMutation CLINVAR LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD. 21747628 2011
dbSNP: rs121918456
rs121918456
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.710 CausalMutation CLINVAR Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation. 21339643 2011
dbSNP: rs121918456
rs121918456
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.710 CausalMutation CLINVAR Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. 20308328 2010
dbSNP: rs121918456
rs121918456
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.710 CausalMutation CLINVAR LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature. 19768645 2010
dbSNP: rs121918456
rs121918456
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.710 CausalMutation CLINVAR Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development. 18849586 2009
dbSNP: rs121918456
rs121918456
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.710 CausalMutation CLINVAR Phenotype-genotype correlation in a patient with co-occurrence of Marfan and LEOPARD syndromes. 19725129 2009
dbSNP: rs121918456
rs121918456
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.710 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: rs121918456
rs121918456
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.710 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218 2006
dbSNP: rs121918456
rs121918456
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.710 CausalMutation CLINVAR Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). 16679933 2006
dbSNP: rs121918456
rs121918456
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.710 CausalMutation CLINVAR Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. 15121796 2004
dbSNP: rs121918456
rs121918456
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.710 CausalMutation CLINVAR PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. 15520399 2004
dbSNP: rs121918456
rs121918456
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.710 CausalMutation CLINVAR [Molecular genetic mutation analysis of the PTPN11 gene in the multiple lentigines (LEOPARD) syndrome]. 14634749 2003
dbSNP: rs121918456
rs121918456
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.710 CausalMutation CLINVAR Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348 2002
dbSNP: rs121918456
rs121918456
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		0.710 GeneticVariation BEFREE We hypothesise that some PTPN11 mutations are associated with the typical Noonan syndrome phenotype and that other mutations, such as the Y279C mutation reported here, are associated with both the Noonan syndrome phenotype and with skin pigmentation anomalies, such as multiple lentigines or café au lait spots. 12161596 2002
dbSNP: rs121918456
rs121918456
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.710 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
dbSNP: rs121918456
rs121918456
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.710 CausalMutation CLINVAR We hypothesise that some PTPN11 mutations are associated with the typical Noonan syndrome phenotype and that other mutations, such as the Y279C mutation reported here, are associated with both the Noonan syndrome phenotype and with skin pigmentation anomalies, such as multiple lentigines or café au lait spots. 12161596 2002