rs1426175410, GATA2

N. diseases: 3
Disease: GATA2 Deficiency ×
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 GeneticVariation CLINVAR Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. 27418648 2016
GATA2 Deficiency
CUI: C3280030
Disease: GATA2 Deficiency
0.700 GeneticVariation CLINVAR Single-gene association between GATA-2 and autoimmune hepatitis: A novel genetic insight highlighting immunologic pathways to disease. 26812071 2016
GATA2 Deficiency
CUI: C3280030
Disease: GATA2 Deficiency
0.700 GeneticVariation CLINVAR Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood. 25879889 2015
GATA2 Deficiency
CUI: C3280030
Disease: GATA2 Deficiency
0.700 GeneticVariation CLINVAR Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation. 24077845 2014
GATA2 Deficiency
CUI: C3280030
Disease: GATA2 Deficiency
0.700 GeneticVariation 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 GeneticVariation CLINVAR Abstracts of the UK PIN (Primary Immunodeficiency Network) Meeting. December 6-7, 2013. Liverpool, United Kingdom. 24266605 2013
GATA2 Deficiency
CUI: C3280030
Disease: GATA2 Deficiency
0.700 GeneticVariation CLINVAR Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). 21892158 2011