Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507543
rs397507543
PTPN11
A 0.700 CausalMutation CLINVAR PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome. 19795160

2010
dbSNP: rs397507543
rs397507543
PTPN11
A 0.700 CausalMutation CLINVAR Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11. 18562489

2008
dbSNP: rs397507543
rs397507543
PTPN11
A 0.700 CausalMutation CLINVAR Noonan syndrome: relationships between genotype, growth, and growth factors. 16263833

2006
dbSNP: rs397507543
rs397507543
PTPN11
A 0.700 CausalMutation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039

2005
dbSNP: rs397507543
rs397507543
PTPN11
A 0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002