rs121918459, PTPN11

N. diseases: 47
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
0.700 CausalMutation CLINVAR A PTPN11 gene mutation (Y63C) causing Noonan syndrome is not associated with short stature in general population. 16498234 2006
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
0.700 CausalMutation CLINVAR Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218 2003
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. 12325025 2002