Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918470
rs121918470
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
C 0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006

dbSNP: rs121918470
rs121918470
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
C 0.700 CausalMutation CLINVAR Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1. 16638574

2006

dbSNP: rs121918470
rs121918470
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
C 0.700 CausalMutation CLINVAR Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. 15948193

2005

dbSNP: rs121918470
rs121918470
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
C 0.700 CausalMutation CLINVAR PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. 15520399

2004