Disease: Noonan Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503381
rs727503381
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions. 24225993 2014