Gene: PTPN11 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918462
rs121918462
PTPN11
0.040 GeneticVariation BEFREE Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11. 26286251

2015
dbSNP: rs121918462
rs121918462
PTPN11
0.040 GeneticVariation BEFREE Patients with a p.Thr73Ile mutation also had more chances of developing MPD/JMML but with a milder clinical course. 25097206

2014
dbSNP: rs121918462
rs121918462
PTPN11
0.040 GeneticVariation BEFREE A definitive genotype-phenotype correlation has not been established, but the T73I mutation seems to predispose to a myeloproliferative disorder. 17020470

2006
dbSNP: rs121918462
rs121918462
PTPN11
0.040 GeneticVariation BEFREE Eight of 19 patients with NS/MPD carried the Thr73Ile substitution. 15928039

2005
dbSNP: rs121918464
rs121918464
PTPN11
0.010 GeneticVariation BEFREE Activating mutations, such as E76K and D61Y, in PTPN11 (SHP2), a protein tyrosine phosphatase implicated in multiple cell signaling processes, are associated with 35% of patients with juvenile myelomonocytic leukemia (JMML), an aggressive childhood myeloproliferative neoplasm (MPN). 27840422

2017
dbSNP: rs397507510
rs397507510
PTPN11
0.010 GeneticVariation BEFREE Activating mutations, such as E76K and D61Y, in PTPN11 (SHP2), a protein tyrosine phosphatase implicated in multiple cell signaling processes, are associated with 35% of patients with juvenile myelomonocytic leukemia (JMML), an aggressive childhood myeloproliferative neoplasm (MPN). 27840422

2017