DisGeNET - a database of gene-disease associations

Emberger Syndrome, C3279664

Variant: rs1559985787 ×

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:

rs1559985787

GATA2

0.700

GeneticVariation

CLINVAR

Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.

26702063

2016

dbSNP:

rs1559985787

GATA2

0.700

GeneticVariation

CLINVAR

Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.

26492932

2015

dbSNP:

rs1559985787

GATA2

0.700

GeneticVariation

CLINVAR

Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.

23365458

2013

dbSNP:

rs1559985787

GATA2

0.700

GeneticVariation

CLINVAR

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

23502222

2013