Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918453
rs121918453
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0376545
Disease:
Hematologic Neoplasms
0.010 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198 2007