rs387906631, GATA2

N. diseases: 6
Disease: Monosomy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Monosomy
CUI: C0026499
Disease: Monosomy
0.010 GeneticVariation BEFREE A GATA2 p.Thr354Met mutation was observed in a pedigree in which 2 first-degree cousins developed high-risk myelodys-plastic syndrome with monosomy 7. 22271902 2012