GATA2, GATA binding protein 2, 2624

N. diseases: 229; N. variants: 33
Disease: Leukemia, Myelocytic, Acute ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906629
rs387906629
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation CLINVAR Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. 22147895 2012
dbSNP: rs387906629
rs387906629
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation CLINVAR Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. 21765025 2011