Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507520
rs397507520
PTPN11
CUI: C0349588
Disease: Short stature
Short stature 		C 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: rs397507520
rs397507520
PTPN11
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
dbSNP: rs397507520
rs397507520
PTPN11
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002