Disease: Noonan Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918461
rs121918461
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.720 GeneticVariation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039 2005
dbSNP: rs121918461
rs121918461
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.720 CausalMutation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039 2005
dbSNP: rs121918461
rs121918461
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.720 GeneticVariation CLINVAR Somatic PTPN11 mutations in childhood acute myeloid leukaemia. 15842656 2005
dbSNP: rs121918461
rs121918461
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.720 CausalMutation CLINVAR Surviving Ptpn11(D61G/+) embryos ( approximately 50%) have short stature, craniofacial abnormalities similar to those in Noonan syndrome, and myeloproliferative disease. 15273746 2004
dbSNP: rs121918461
rs121918461
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.720 CausalMutation CLINVAR Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. 15240615 2004
dbSNP: rs121918461
rs121918461
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.720 GeneticVariation CLINVAR Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. 14644997 2004
dbSNP: rs121918461
rs121918461
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.720 CausalMutation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469 2002
dbSNP: rs121918461
rs121918461
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.720 GeneticVariation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469 2002
dbSNP: rs121918461
rs121918461
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.720 GeneticVariation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
dbSNP: rs121918461
rs121918461
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.720 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001