rs28933386, PTPN11

N. diseases: 15
Disease: Congenital stenosis of pulmonary valve ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital stenosis of pulmonary valve
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218 2006
Congenital stenosis of pulmonary valve
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
0.700 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001