DisGeNET - a database of gene-disease associations

GATAD2B, GATA zinc finger domain containing 2B, 57459

N. diseases: 136; N. variants: 22

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs4391701

Entrez Id:	57459
Gene Symbol:	GATAD2B

GATAD2B

CUI:	C0596887
Disease:

mathematical ability

0.700

GeneticVariation

GWASCAT

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

30038396

2018

dbSNP:

rs4595397

Entrez Id:	57459
Gene Symbol:	GATAD2B

GATAD2B

CUI:	C0596887
Disease:

mathematical ability

0.700

GeneticVariation

GWASCAT

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

30038396

2018

dbSNP:

rs4612664

Entrez Id:	57459
Gene Symbol:	GATAD2B

GATAD2B

CUI:	C0596887
Disease:

mathematical ability

0.700

GeneticVariation

GWASCAT

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

30038396

2018

dbSNP:

rs587776931

Entrez Id:	57459
Gene Symbol:	GATAD2B

GATAD2B

CUI:	C3554448
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 18

0.700

CausalMutation

CLINVAR

dbSNP:

rs761820222

Entrez Id:	57459
Gene Symbol:	GATAD2B

GATAD2B

CUI:	C3554448
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 18

0.700

CausalMutation

CLINVAR

dbSNP:

rs78053957

Entrez Id:	57459
Gene Symbol:	GATAD2B

GATAD2B

CUI:	C1261502
Disease:

Finding of Mean Corpuscular Hemoglobin

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs797045594

Entrez Id:	57459
Gene Symbol:	GATAD2B

GATAD2B

CUI:	C3554448
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 18

0.700

CausalMutation

CLINVAR

dbSNP:

rs886037647

Entrez Id:	57459
Gene Symbol:	GATAD2B

GATAD2B

CUI:	C3554448
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 18

0.700

CausalMutation

CLINVAR

dbSNP:

rs946006593

Entrez Id:	57459
Gene Symbol:	GATAD2B

GATAD2B

CUI:	C1849265
Disease:

Overgrowth

0.700

CausalMutation

CLINVAR

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.

26944241

2016

dbSNP:

rs946006593

Entrez Id:	57459
Gene Symbol:	GATAD2B

GATAD2B

CUI:	C1849265
Disease:

Overgrowth

0.700

CausalMutation

CLINVAR

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

23644463

2013

dbSNP:

rs946006593

Entrez Id:	57459
Gene Symbol:	GATAD2B

GATAD2B

CUI:	C1849265
Disease:

Overgrowth

0.700

CausalMutation

CLINVAR

Diagnostic exome sequencing in persons with severe intellectual disability.

23033978

2012

dbSNP:

rs946006593

Entrez Id:	57459
Gene Symbol:	GATAD2B

GATAD2B

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Diagnostic exome sequencing in persons with severe intellectual disability.

23033978

2012

dbSNP:

rs946006593

Entrez Id:	57459
Gene Symbol:	GATAD2B

GATAD2B

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.

26944241

2016

dbSNP:

rs946006593

Entrez Id:	57459
Gene Symbol:	GATAD2B

GATAD2B

CUI:	C1849265
Disease:

Overgrowth

0.700

CausalMutation

CLINVAR

De novo mutations in moderate or severe intellectual disability.

25356899

2014

dbSNP:

rs946006593

Entrez Id:	57459
Gene Symbol:	GATAD2B

GATAD2B

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

De novo mutations in moderate or severe intellectual disability.

25356899

2014

dbSNP:

rs946006593

Entrez Id:	57459
Gene Symbol:	GATAD2B

GATAD2B

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

23644463

2013