DisGeNET - a database of gene-disease associations

Emberger Syndrome, C3279664

Variant: rs1426175410 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1426175410

GATA2

0.700

GeneticVariation

CLINVAR

Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.

27418648

2016

dbSNP:

rs1426175410

GATA2

0.700

GeneticVariation

CLINVAR

Single-gene association between GATA-2 and autoimmune hepatitis: A novel genetic insight highlighting immunologic pathways to disease.

26812071

2016

dbSNP:

rs1426175410

GATA2

0.700

GeneticVariation

CLINVAR

Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood.

25879889

2015

dbSNP:

rs1426175410

GATA2

0.700

GeneticVariation

CLINVAR

Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation.

24077845

2014

dbSNP:

rs1426175410

GATA2

0.700

GeneticVariation

CLINVAR

GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.

23502222

2013

dbSNP:

rs1426175410

GATA2

0.700

GeneticVariation

CLINVAR

Abstracts of the UK PIN (Primary Immunodeficiency Network) Meeting. December 6-7, 2013. Liverpool, United Kingdom.

24266605

2013

dbSNP:

rs1426175410

GATA2

0.700

GeneticVariation

CLINVAR

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).

21892158

2011