Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2624
Gene name Gene Name - the full gene name approved by the HGNC.	GATA binding protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GATA2
Synonyms (NCBI Gene) Gene synonyms aliases	DCML, IMD21, MONOMAC, NFE1B
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3q21.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcript

Show/Hide all(56)

SNP ID	Visualize variation	Clinical significance	Consequence
rs142993548	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs143590990	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs376003468	G>A,T	Likely-pathogenic, likely-benign	Missense variant, coding sequence variant, synonymous variant
rs387906629	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs387906630	G>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs387906631	G>A	Likely-pathogenic, risk-factor, pathogenic	Missense variant, coding sequence variant
rs387906632	G>A	Pathogenic	Coding sequence variant, stop gained
rs387906633	A>G	Pathogenic	Missense variant, coding sequence variant
rs387906634	C>A	Pathogenic	Missense variant, coding sequence variant
rs750890699	G>A,T	Likely-benign, likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs764747992	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs768767517	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs797045591	A>G	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs797045592	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs863224874	->GAGG	Pathogenic	Frameshift variant, coding sequence variant
rs867160952	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs869320668	C>A	Pathogenic	Splice acceptor variant, intron variant
rs869320734	TTGGCGTTTCGG>-	Pathogenic	Inframe deletion, coding sequence variant
rs869320735	T>GC	Pathogenic	Frameshift variant, coding sequence variant
rs869320770	->GCCG	Pathogenic, likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1313081073	T>A,G	Likely-pathogenic	Intron variant, synonymous variant, stop gained, coding sequence variant
rs1426175410	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1553770434	C>T	Pathogenic	Missense variant, coding sequence variant
rs1553770510	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1553770655	TGCAGATGTCCGGATAGGAAACTCCGGC>-	Pathogenic	Intron variant
rs1553770949	->GTCAG	Pathogenic, likely-pathogenic	Inframe insertion, stop gained, coding sequence variant
rs1553770978	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1553771050	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1559985787	G>A	Pathogenic, likely-pathogenic	Intron variant
rs1559986109	->TGGCCCCACAGTTG	Pathogenic	Frameshift variant, coding sequence variant
rs1559986946	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1576744529	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1576744575	->GT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1576744594	AACC>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1576744604	C>G	Likely-pathogenic	Splice acceptor variant
rs1576745225	TGT>-	Risk-factor	Coding sequence variant, inframe deletion
rs1576745256	C>T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1576745260	A>G	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1576745270	->GCTCTTCTGGCGGCCG	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1576745308	C>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1576745322	T>G	Likely-pathogenic	Intron variant, splice acceptor variant
rs1576746830	A>T	Pathogenic	Splice donor variant
rs1576746847	G>A	Pathogenic	Coding sequence variant, stop gained
rs1576746848	->TTCATCTTGTGGTAGAGGCCACAGG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1576746862	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1576746931	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1576748357	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1576748366	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1576748378	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1576748582	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1576748609	CGTCCTTGTCCTCTCCTCGGGCTGCACTACCCCCCGCGGAAGATGAGGCTGGAGACGCAGCCCCCGTGGTGCTAG>AGCCCCCGTGGTGCTA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1576748638	G>A	Pathogenic	Coding sequence variant, stop gained
rs1576748738	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1576749014	GGCCT>TAC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1576749168	->GG	Pathogenic	Frameshift variant, coding sequence variant
rs1576749301	->G	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(93)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029763	hsa-miR-26b-5p	Microarray	19088304
MIRT054893	hsa-miR-27a-3p	Luciferase reporter assay	23322776
MIRT054893	hsa-miR-27a-3p	Luciferase reporter assay	23322776
MIRT734853	hsa-miR-675-5p	Luciferase reporter assay, Western blotting, RNA-seq	33513878
MIRT1012484	hsa-miR-200b	CLIP-seq
MIRT1012485	hsa-miR-200c	CLIP-seq
MIRT1012486	hsa-miR-3117-5p	CLIP-seq
MIRT1012487	hsa-miR-3176	CLIP-seq
MIRT1012488	hsa-miR-3922-3p	CLIP-seq
MIRT1012489	hsa-miR-3923	CLIP-seq
MIRT1012490	hsa-miR-429	CLIP-seq
MIRT1012491	hsa-miR-4424	CLIP-seq
MIRT1012492	hsa-miR-4646-5p	CLIP-seq
MIRT1012493	hsa-miR-4704-5p	CLIP-seq
MIRT1012494	hsa-miR-4754	CLIP-seq
MIRT1012495	hsa-miR-4764-3p	CLIP-seq
MIRT1012496	hsa-miR-548ac	CLIP-seq
MIRT1012497	hsa-miR-548ae	CLIP-seq
MIRT1012498	hsa-miR-548aj	CLIP-seq
MIRT1012499	hsa-miR-548am	CLIP-seq
MIRT1012500	hsa-miR-548c-3p	CLIP-seq
MIRT1012501	hsa-miR-548d-3p	CLIP-seq
MIRT1012502	hsa-miR-548x	CLIP-seq
MIRT1012503	hsa-miR-548z	CLIP-seq
MIRT1012504	hsa-miR-586	CLIP-seq
MIRT1012505	hsa-miR-661	CLIP-seq
MIRT1999932	hsa-miR-1343	CLIP-seq
MIRT1999933	hsa-miR-1972	CLIP-seq
MIRT1999934	hsa-miR-409-3p	CLIP-seq
MIRT1999935	hsa-miR-4486	CLIP-seq
MIRT1999936	hsa-miR-4640-5p	CLIP-seq
MIRT1999937	hsa-miR-4717-5p	CLIP-seq
MIRT1999938	hsa-miR-4726-5p	CLIP-seq
MIRT1999939	hsa-miR-513a-5p	CLIP-seq
MIRT2233321	hsa-miR-103b	CLIP-seq
MIRT2233322	hsa-miR-105	CLIP-seq
MIRT2233323	hsa-miR-1207-5p	CLIP-seq
MIRT2233324	hsa-miR-128	CLIP-seq
MIRT2233325	hsa-miR-181a	CLIP-seq
MIRT2233326	hsa-miR-181b	CLIP-seq
MIRT2233327	hsa-miR-181c	CLIP-seq
MIRT2233328	hsa-miR-181d	CLIP-seq
MIRT2233329	hsa-miR-1827	CLIP-seq
MIRT2233330	hsa-miR-1913	CLIP-seq
MIRT1999933	hsa-miR-1972	CLIP-seq
MIRT2233331	hsa-miR-2110	CLIP-seq
MIRT2233332	hsa-miR-27a	CLIP-seq
MIRT2233333	hsa-miR-27b	CLIP-seq
MIRT2233334	hsa-miR-296-5p	CLIP-seq
MIRT1012487	hsa-miR-3176	CLIP-seq
MIRT2233335	hsa-miR-3178	CLIP-seq
MIRT2233336	hsa-miR-324-3p	CLIP-seq
MIRT2233337	hsa-miR-338-5p	CLIP-seq
MIRT2233338	hsa-miR-3612	CLIP-seq
MIRT2233339	hsa-miR-361-3p	CLIP-seq
MIRT2233340	hsa-miR-3661	CLIP-seq
MIRT2233341	hsa-miR-3691-3p	CLIP-seq
MIRT2233342	hsa-miR-376a	CLIP-seq
MIRT2233343	hsa-miR-376b	CLIP-seq
MIRT1012488	hsa-miR-3922-3p	CLIP-seq
MIRT2233344	hsa-miR-3943	CLIP-seq
MIRT2233345	hsa-miR-410	CLIP-seq
MIRT2233346	hsa-miR-4262	CLIP-seq
MIRT2233347	hsa-miR-4271	CLIP-seq
MIRT2233348	hsa-miR-4287	CLIP-seq
MIRT2233349	hsa-miR-4292	CLIP-seq
MIRT2233350	hsa-miR-4308	CLIP-seq
MIRT2233351	hsa-miR-4313	CLIP-seq
MIRT2233352	hsa-miR-4469	CLIP-seq
MIRT1999935	hsa-miR-4486	CLIP-seq
MIRT1012492	hsa-miR-4646-5p	CLIP-seq
MIRT2233353	hsa-miR-4685-3p	CLIP-seq
MIRT2233354	hsa-miR-4690-5p	CLIP-seq
MIRT1999937	hsa-miR-4717-5p	CLIP-seq
MIRT2233355	hsa-miR-4722-5p	CLIP-seq
MIRT2233356	hsa-miR-4725-3p	CLIP-seq
MIRT2233357	hsa-miR-4731-5p	CLIP-seq
MIRT2233358	hsa-miR-4736	CLIP-seq
MIRT2233359	hsa-miR-4749-3p	CLIP-seq
MIRT2233360	hsa-miR-4763-3p	CLIP-seq
MIRT2233361	hsa-miR-491-5p	CLIP-seq
MIRT1999939	hsa-miR-513a-5p	CLIP-seq
MIRT2233362	hsa-miR-515-5p	CLIP-seq
MIRT2233363	hsa-miR-543	CLIP-seq
MIRT2233364	hsa-miR-631	CLIP-seq
MIRT2233365	hsa-miR-650	CLIP-seq
MIRT2233323	hsa-miR-1207-5p	CLIP-seq
MIRT2233358	hsa-miR-4736	CLIP-seq
MIRT2233360	hsa-miR-4763-3p	CLIP-seq
MIRT2233337	hsa-miR-338-5p	CLIP-seq
MIRT2429285	hsa-miR-3613-5p	CLIP-seq
MIRT1999934	hsa-miR-409-3p	CLIP-seq
MIRT2233345	hsa-miR-410	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
HDAC3	Repression	11567998
NANOG	Repression	15983365

Show/Hide all(112)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	27780851
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0001221	Function	Transcription coregulator binding	IPI	12483298
GO:0001223	Function	Transcription coactivator binding	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001655	Process	Urogenital system development	IEA
GO:0001709	Process	Cell fate determination	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0001892	Process	Embryonic placenta development	IEA
GO:0002067	Process	Glandular epithelial cell differentiation	IEA
GO:0002071	Process	Glandular epithelial cell maturation	IEA
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IDA	19242469
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	15016828, 20206639
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	7568177, 10938104, 16153155, 18250304, 20211142, 20705609, 21988832, 23887938, 25416956, 31515488, 32296183, 32814053, 35140242, 35512704
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	27780851
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IDA	27780851
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006909	Process	Phagocytosis	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0007406	Process	Negative regulation of neuroblast proliferation	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	22499991, 27780851
GO:0010629	Process	Negative regulation of gene expression	IMP	27780851
GO:0010725	Process	Regulation of primitive erythrocyte differentiation	IEA
GO:0021514	Process	Ventral spinal cord interneuron differentiation	IEA
GO:0021533	Process	Cell differentiation in hindbrain	IEA
GO:0021902	Process	Commitment of neuronal cell to specific neuron type in forebrain	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0021954	Process	Central nervous system neuron development	IEA
GO:0021983	Process	Pituitary gland development	IEA
GO:0030099	Process	Myeloid cell differentiation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0033993	Process	Response to lipid	IEA
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0035854	Process	Eosinophil fate commitment	IDA	12045236
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042551	Process	Neuron maturation	IEA
GO:0043306	Process	Positive regulation of mast cell degranulation	IEA
GO:0043536	Process	Positive regulation of blood vessel endothelial cell migration	IMP	22499991
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045165	Process	Cell fate commitment	IBA
GO:0045444	Process	Fat cell differentiation	IMP	20705609
GO:0045638	Process	Negative regulation of myeloid cell differentiation	IEA
GO:0045648	Process	Positive regulation of erythrocyte differentiation	IEA
GO:0045650	Process	Negative regulation of macrophage differentiation	IEA
GO:0045654	Process	Positive regulation of megakaryocyte differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045746	Process	Negative regulation of Notch signaling pathway	IDA	16672344
GO:0045766	Process	Positive regulation of angiogenesis	IBA
GO:0045766	Process	Positive regulation of angiogenesis	IDA	19242469
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IMP	21788589
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	15016828, 16153155, 20206639, 21788589
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	19323994
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	19242469
GO:0046872	Function	Metal ion binding	IEA
GO:0048663	Process	Neuron fate commitment	IEA
GO:0048731	Process	System development	IEA
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0050766	Process	Positive regulation of phagocytosis	IEA
GO:0050766	Process	Positive regulation of phagocytosis	ISS
GO:0050793	Process	Regulation of developmental process	IEA
GO:0050873	Process	Brown fat cell differentiation	IEA
GO:0060100	Process	Positive regulation of phagocytosis, engulfment	IEA
GO:0060129	Process	Thyroid-stimulating hormone-secreting cell differentiation	IEA
GO:0060216	Process	Definitive hemopoiesis	IEA
GO:0060872	Process	Semicircular canal development	IEA
GO:0061042	Process	Vascular wound healing	IMP	22499991
GO:0061101	Process	Neuroendocrine cell differentiation	IEA
GO:0061351	Process	Neural precursor cell proliferation	IEA
GO:0061484	Process	Hematopoietic stem cell homeostasis	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	15016828
GO:0070742	Function	C2H2 zinc finger domain binding	IPI	12483298
GO:0090050	Process	Positive regulation of cell migration involved in sprouting angiogenesis	IMP	27780851
GO:0090102	Process	Cochlea development	IEA
GO:0097154	Process	GABAergic neuron differentiation	IEA
GO:1901533	Process	Negative regulation of hematopoietic progenitor cell differentiation	IEA
GO:1902895	Process	Positive regulation of miRNA transcription	IBA
GO:1902895	Process	Positive regulation of miRNA transcription	IDA	27780851
GO:1902895	Process	Positive regulation of miRNA transcription	IGI	27780851
GO:1903444	Process	Negative regulation of brown fat cell differentiation	IEA
GO:1903589	Process	Positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis	IMP	27780851
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA
GO:2000178	Process	Negative regulation of neural precursor cell proliferation	IDA	16672344
GO:2000352	Process	Negative regulation of endothelial cell apoptotic process	IMP	21788589
GO:2000977	Process	Regulation of forebrain neuron differentiation	IEA

MIM	HGNC	e!Ensembl
137295	4171	ENSG00000179348

Protein

UniProt ID

P23769

Protein name

Endothelial transcription factor GATA-2 (GATA-binding protein 2)

Protein function

Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5'-AGATAG-3'.

PDB

5O9B , 6ZFV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00320	GATA	295 → 329	GATA zinc finger	Domain
PF00320	GATA	349 → 383	GATA zinc finger	Domain

Tissue specificity

TISSUE SPECIFICITY: Endothelial cells.

Sequence

MEVAPEQPRWMAHPAVLNAQHPDSHHPGLAHNYMEPAQLLPPDEVDVFFNHLDSQGNPYY
ANPAHARARVSYSPAHARLTGGQMCRPHLLHSPGLPWLDGGKAALSAAAAHHHNPWTVSP
FSKTPLHPSAAGGPGGPLSVYPGAGGGSGGGSGSSVASLTPTAAHSGSHLFGFPPTPPKE
VSPDPSTTGAASPASSSAGGSAARGEDKDGVKYQVSLTESMKMESGSPLRPGLATMGTQP
ATHHPIPTYPSYVPAAAHDYSSGLFHPGGFLGGPASSFTPKQRSKARSCSEGRECVNCGA
TATPLWRRDGTGHYLCNACGLYHKMNGQNRPLIKPKRRLSAARRAGTCCANCQTTTTTLW
RRNANGDPVCNACGLYYKLHNVNRPLTMKKEGIQTRNRKMSNKSKKSKKGAECFEELSKC
MQEKSSPFSAAALAGHMAPVGHLPPFSHSGHILPTPTPIHPSSSLSFGHPHPSSMVTAMG

Sequence length

480

Interactions

View interactions

	Reactome
			RUNX1 regulates transcription of genes involved in differentiation of HSCs Factors involved in megakaryocyte development and platelet production

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Deafness-Lymphedema-Leukemia Syndrome	deafness-lymphedema-leukemia syndrome	rs1553770510, rs1576745256, rs1576745260, rs1576749168, rs1576748378, rs1576749301, rs387906632, rs387906633, rs387906634, rs863224874	N/A
Myelodysplastic Syndrome	myelodysplastic syndrome	rs1576749014, rs387906631, rs1576745225	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
acute myeloid leukemia	Acute myeloid leukemia	N/A	N/A	ClinVar
GATA2 Deficiency	GATA2 deficiency with susceptibility to MDS/AML	N/A	N/A	GenCC
Myeloid Leukemia	acute myeloid leukemia	N/A	N/A	GenCC
Prostate cancer	Prostate cancer	N/A	N/A	GWAS

Show/Hide Text Mining Associations (165)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	33648465
Agammaglobulinemia	Associate	34670919
Alzheimer Disease	Associate	31377428
Anemia	Associate	31035956
Anemia Aplastic	Inhibit	11328281, 19772889
Anemia Aplastic	Associate	17654061, 23028422, 25359990, 26325290
Anemia Refractory	Associate	27013649
Antiphospholipid Syndrome	Associate	37901230
Asthma	Associate	22246175
Ataxia Telangiectasia	Associate	24782050
Autoimmune Diseases	Associate	34670919
Bacterial Infections	Associate	36455197
Blast Injuries	Associate	31035956
Blood Coagulation Disorders Inherited	Associate	32555368
Bone Marrow Diseases	Associate	25359990, 30578959, 34529785
Bone Marrow Failure Disorders	Associate	25239263, 30538114, 30578959, 32088370, 34284273, 38422019
Breast Neoplasms	Associate	37684436
Carcinogenesis	Associate	19587786
Carcinoma Hepatocellular	Inhibit	24498120
Carcinoma Hepatocellular	Associate	27528231, 35534193
Carcinoma Renal Cell	Associate	34638133
Carcinoma Renal Cell	Inhibit	36961416
Carcinoma Squamous Cell	Associate	26297502
Cardiomyopathies	Associate	32196466
Cardiotoxicity	Stimulate	37684436
Cell Transformation Viral	Associate	21765025
Central Nervous System Neoplasms	Associate	34417833
Cerebellar Ataxia	Associate	36104591
Cholesterol pneumonia	Associate	26264606
Chromosome 7 monosomy	Associate	22271902, 26702063, 32770553, 36727400
Chromosome 8 trisomy	Associate	36727400
Chromosome Aberrations	Associate	36727400
Colorectal Neoplasms	Associate	26287967, 28675510, 30658502, 33495406, 34262080, 35752837, 36991484
Common Variable Immunodeficiency	Associate	33859323
Condylomata Acuminata	Associate	28440875
Coronary Artery Disease	Associate	16934006, 19706030, 24782050
Coronary Disease	Associate	21808000, 23314186
COVID 19	Associate	36104591, 37261353
Coxa Magna	Associate	35118903
Cryptococcosis	Associate	35983050
Cyclic neutropenia	Associate	37406166
Deafness	Associate	24345756, 28637621, 40664679
Death	Associate	22271902
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	33417088
Dementia Multi Infarct	Associate	30578959
Depressive Disorder	Associate	34341332
Diabetes Mellitus	Associate	38166541
Diabetes Mellitus Type 2	Associate	32041280
Down Syndrome	Associate	16492768
Encephalitis Herpes Simplex	Associate	24782121, 25879889, 29343653
Epidermolysis bullosa simplex Ogna type	Associate	28675510
Epistaxis	Associate	28271814
Erythema Nodosum	Associate	28440875
Facial Nerve Diseases	Associate	28440875
Fungemia	Associate	34051752
Fused Kidney	Associate	31296150
GATA2 Deficiency	Associate	22533337, 23223431, 23365458, 23502222, 24227816, 24345756, 24703711, 25359990, 26325290, 26693794, 28271814, 28440875, 28637621, 30538114, 31035956 View all (12 more)
GATA2 Deficiency	Inhibit	26264606, 27894982, 36455197
Hearing Loss	Associate	34893945
Hematologic Diseases	Associate	24345756, 25359990, 28271814, 28440875, 28637621, 31035956, 32556286, 34233447, 34270823, 34576178
Hematologic Neoplasms	Associate	17654061, 26287967, 29146883, 29365323, 29724903, 34570179, 37406166
Hepatitis Autoimmune	Associate	26812071
Hepatitis B	Associate	21765025
Hodgkin Disease	Associate	26473286
Holoprosencephaly recurrent infections and monocytosis	Associate	26702063
Hydroa Vacciniforme	Associate	40191186
Hyperglycemic Hyperosmolar Nonketotic Coma	Associate	37042872
Hypomagnesemia primary	Associate	25381062, 32219447, 35470277
Hypothalamic Neoplasms	Associate	34576178
Hypothyroidism	Associate	31035956
Hypoxia	Associate	11278891
Ige Responsiveness Atopic	Associate	22246175
Immune System Diseases	Associate	29295841, 29724903, 35603181, 37325673, 40191186
Immunoglobulin G4 Related Disease	Associate	32088370
Immunologic Deficiency Syndromes	Associate	21765025, 21816832, 24726085, 24782121, 25056917, 25879889, 26812071, 28209719, 28637621, 29724903, 31035956, 31808891, 32555368, 34284273, 35983050
Infections	Associate	21670465, 24345756, 28271814, 29680795, 31322613
Inflammation	Associate	21808000
Intellectual Disability	Associate	36104591
Invasive Fungal Infections	Associate	33570623
Invasive Pneumococcal Disease Recurrent Isolated 2	Associate	33417088, 36455197
Invasive Pulmonary Aspergillosis	Associate	33570623
Isodicentric Chromosome 15 Syndrome	Stimulate	15138998
Isodicentric Chromosome 15 Syndrome	Associate	25381062, 32219447
Leiomyoma	Associate	32372565
Leiomyomatosis	Associate	32372565
Leukemia	Associate	19587786, 21670465, 23344397, 24703711, 25056917, 28114350, 28271814, 29724903, 30538114, 30810468, 30850577, 33684095, 34075404, 36809258, 38422019, 7519472 View all (1 more)
Leukemia B Cell	Associate	25359990, 26812071
Leukemia Erythroblastic Acute	Associate	26325290
Leukemia Megakaryoblastic Acute	Associate	16492768
Leukemia Monocytic Acute	Associate	27545880
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	18550858, 33647814
Leukemia Myeloid	Associate	21670465, 24077845, 26702063, 37427790, 38029365, 7519472
Leukemia Myeloid Acute	Associate	15138998, 19097174, 21816832, 22271902, 22649106, 22786876, 23223431, 24345756, 24782121, 25359990, 25805812, 26492932, 26721895, 27545880, 27894982 View all (25 more)
Leukemia Promyelocytic Acute	Associate	11964310
Li Fraumeni Syndrome	Associate	29365323
Lipoma	Associate	19772889
Lung Diseases	Associate	28637621
Lung Diseases Interstitial	Associate	25879889
Lung Neoplasms	Associate	26325290, 35538035
Lymphatic Metastasis	Associate	36961416
Lymphedema	Associate	24227816, 24345756, 28209719, 28271814, 28637621, 30538114, 32556286, 34387894, 36455197, 40664679
Lymphohistiocytosis Hemophagocytic	Associate	34040617
Lymphoma B Cell	Associate	21816832
Lymphoma Extranodal NK T Cell	Associate	21765025, 24726085
Lymphopenia	Associate	21670465, 23365458, 25879889, 27013649
Mediastinal Diseases	Associate	34638133
Melanoma	Associate	29156497
Mouth Diseases	Associate	29680795
Multiple Sclerosis	Associate	30245028
Mycobacterium avium intracellulare Infection	Associate	23344397, 34051752
Mycobacterium Infections	Associate	31035956
Mycobacterium Infections Nontuberculous	Associate	21816832, 24227816, 25359990, 34040617, 34051752
Mycoses	Associate	36455197
Myelodysplastic Syndromes	Associate	21816832, 22271902, 22533337, 23223431, 24077845, 24227816, 24703711, 24782121, 25056917, 25239263, 25359990, 26264606, 26702063, 27013649, 27418648 View all (30 more)
Nasopharyngeal Carcinoma	Associate	30935420
Neoplasm Metastasis	Associate	24448395, 35534193, 37550764
Neoplasm Metastasis	Stimulate	40180167
Neoplasms	Associate	21670465, 22613949, 23223431, 23365458, 24703711, 25056917, 25394776, 25879889, 26287967, 28118844, 28637621, 30190467, 30538114, 30576868, 31296150 View all (11 more)
Neoplasms	Inhibit	24498120
Neural Tube Defects	Associate	21670465, 23223431, 24345756, 26812071, 28271814, 29343653, 31035956, 32556286, 33417088, 34089740, 36455197
Neuroblastoma	Inhibit	19707195
Neuroblastoma	Associate	36416237
Neurotoxicity Syndromes	Associate	32088370
Neutropenia	Associate	23223431, 38029365
Neutropenia severe chronic	Associate	23223431
Neutropenia Severe Congenital Autosomal Recessive 3	Associate	25359990
Norrie disease	Associate	32041280
Obesity	Associate	25630869
Opportunistic Infections	Associate	23365458, 24077845, 27894982
Ovarian Neoplasms	Associate	35488350
Pancreatic Neoplasms	Associate	35534193
Pancytopenia	Associate	23344397, 28271814
Panniculitis	Associate	28440875
Papillomavirus Infections	Associate	39267745
Penile Induration	Associate	22271902
Peri Implantitis	Associate	38597081
Periodontitis	Inhibit	25630869
Peritonitis	Associate	22533337
Porphyria Cutanea Tarda	Associate	30538114
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	35983050
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	29724903, 35983050, 38029365
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	22533337, 23521373, 23560626, 24755948, 28440875, 31409822
Primary Immunodeficiency Diseases	Associate	21670465, 31035956, 34670919
Primary Myelofibrosis	Associate	33560389
Propping Zerres syndrome	Associate	23344397
Prostatic Neoplasms	Associate	24423874, 24448395, 26751772, 28486040, 30100187, 30833300, 31296150, 31501863, 31562322, 34636746, 36251994, 37550764
Prostatic Neoplasms Castration Resistant	Associate	30833300
Pulmonary Alveolar Proteinosis	Associate	26264606, 36455197
Pulmonary Disease Chronic Obstructive	Associate	34321876
Pulpitis	Associate	33777260
Respiratory Tract Diseases	Associate	37925496
Respiratory Tract Infections	Associate	32556286
Retinal Dysplasia	Associate	36455197
Sepsis	Associate	35983050
Severe Acute Respiratory Syndrome	Associate	30578959
Skin Diseases	Associate	29156497
Squamous Intraepithelial Lesions	Associate	39267745
Stomach Neoplasms	Associate	24338397, 35289315
Stroke	Associate	23344397
Thrombosis	Associate	31035956, 32088370, 34233447
Tuberculosis Pulmonary	Associate	29680795
Uterine Cervical Neoplasms	Associate	40180167
Vascular System Injuries	Associate	28637621
Virus Diseases	Associate	23365458, 29343653, 31035956
Warts	Associate	28271814

GATA2 (GATA binding protein 2)