rs387906631, GATA2

N. diseases: 6
Disease: Emberger Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Emberger Syndrome
CUI: C3279664
Disease: Emberger Syndrome
0.700 CausalMutation CLINVAR Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia. 25676417 2015
Emberger Syndrome
CUI: C3279664
Disease: Emberger Syndrome
0.700 CausalMutation CLINVAR Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset. 23365458 2013
Emberger Syndrome
CUI: C3279664
Disease: Emberger Syndrome
0.700 CausalMutation CLINVAR Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. 21670465 2011
Emberger Syndrome
CUI: C3279664
Disease: Emberger Syndrome
0.700 CausalMutation CLINVAR Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. 21892162 2011