rs121918453, PTPN11

N. diseases: 19
Disease: Rhabdomyosarcoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Rhabdomyosarcoma
CUI: C0035412
Disease: Rhabdomyosarcoma
0.010 GeneticVariation BEFREE In a screen for mutations of PTPN11 in 7 cell lines and 30 fresh tumors of RMS and in 25 cell lines and 40 fresh tumors of NB, we identified a missense mutation (A72T) in an embryonal RMS patient. 16518851 2006