Disease: Noonan Syndrome 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		0.800 GeneticVariation UNIPROT Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		0.800 GeneticVariation UNIPROT PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469 2002
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		0.800 GeneticVariation UNIPROT 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: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		0.800 GeneticVariation UNIPROT Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. 28074573 2017
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		0.800 GeneticVariation UNIPROT A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy. 15889278 2005
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		0.800 GeneticVariation UNIPROT PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		0.800 GeneticVariation UNIPROT Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation. 15384080 2004
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		0.800 GeneticVariation UNIPROT A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. 24891296 2014
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		0.800 GeneticVariation UNIPROT PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. 12325025 2002
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		0.800 GeneticVariation UNIPROT Noonan syndrome: clinical features, diagnosis, and management guidelines. 20876176 2010
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		0.800 GeneticVariation UNIPROT Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218 2003