Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503380
rs727503380
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.700 GeneticVariation CLINVAR Progression in patients with low- and intermediate-1-risk del(5q) myelodysplastic syndromes is predicted by a limited subset of mutations. 27884971

2017
dbSNP: rs727503380
rs727503380
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.700 GeneticVariation CLINVAR Parallel targeted next generation sequencing of childhood and adult acute myeloid leukemia patients reveals uniform genomic profile of the disease. 27460089

2016
dbSNP: rs727503380
rs727503380
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.700 GeneticVariation CLINVAR Clinical and biological implications of driver mutations in myelodysplastic syndromes. 24030381

2013
dbSNP: rs727503380
rs727503380
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.700 GeneticVariation CLINVAR PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes. 20578946

2010
dbSNP: rs727503380
rs727503380
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.700 GeneticVariation CLINVAR Genotype differences in cognitive functioning in Noonan syndrome. 19077116

2009
dbSNP: rs727503380
rs727503380
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.700 GeneticVariation CLINVAR Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia. 15604238

2004