rs387906632, GATA2

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
GATA2 Deficiency
CUI: C3280030
Disease: GATA2 Deficiency
0.700 CausalMutation CLINVAR Multiple Opportunistic Infections in a Woman with GATA2 Mutation. 27894982 2017
Emberger Syndrome
CUI: C3279664
Disease: Emberger Syndrome
0.700 CausalMutation CLINVAR Multiple Opportunistic Infections in a Woman with GATA2 Mutation. 27894982 2017
GATA2 Deficiency
CUI: C3280030
Disease: GATA2 Deficiency
0.700 CausalMutation CLINVAR GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. 23502222 2013
Emberger Syndrome
CUI: C3279664
Disease: Emberger Syndrome
0.700 CausalMutation CLINVAR GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. 23502222 2013
GATA2 Deficiency
CUI: C3280030
Disease: GATA2 Deficiency
0.700 CausalMutation CLINVAR Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). 21892158 2011
Emberger Syndrome
CUI: C3279664
Disease: Emberger Syndrome
0.700 CausalMutation CLINVAR Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). 21892158 2011