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.	2626
Gene name Gene Name - the full gene name approved by the HGNC.	GATA binding protein 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GATA4
Synonyms (NCBI Gene) Gene synonyms aliases	ASD2, TACHD, TOF, VSD1
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8p23.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in

Show/Hide all(39)

SNP ID	Visualize variation	Clinical significance	Consequence
rs745379	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs804280	C>A,G,T	Pathogenic, uncertain-significance	Intron variant
rs3729851	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs3729856	A>G	Benign, likely-pathogenic	Missense variant, coding sequence variant
rs3735819	T>C,G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs10503425	G>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs12156163	C>G,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs56208331	G>A,T	Benign, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs56298569	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs104894073	G>A,C,T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs104894074	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs113049875	G>A,C,T	Pathogenic	Intron variant
rs115099192	C>A,G	Uncertain-significance, benign, pathogenic	Missense variant, coding sequence variant
rs115372595	C>T	Likely-benign, benign, pathogenic	Missense variant, coding sequence variant
rs116052854	C>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs146017816	C>G,T	Pathogenic, likely-benign	Coding sequence variant, missense variant
rs147860174	G>A	Pathogenic, uncertain-significance	Intron variant
rs368489876	G>A	Pathogenic	Missense variant, coding sequence variant
rs387906769	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, intron variant
rs387906770	C>A,T	Pathogenic, uncertain-significance, likely-benign	Coding sequence variant, missense variant, synonymous variant, intron variant
rs387906771	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, intron variant
rs387906772	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs398122402	G>A	Pathogenic	Coding sequence variant, missense variant
rs864321698	C>A,T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs864321699	G>A,C	Pathogenic	Intron variant, coding sequence variant, missense variant
rs864321700	A>T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs864321701	A>T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs864321702	T>A	Pathogenic	Coding sequence variant, missense variant
rs864321703	C>A	Pathogenic	Intron variant, synonymous variant, coding sequence variant
rs864321704	C>T	Pathogenic	Synonymous variant, coding sequence variant
rs864321705	T>G	Pathogenic	Splice donor variant
rs1182566703	CGCCGC>-,CGC,CGCCGCCGC	Pathogenic, uncertain-significance	Coding sequence variant, inframe deletion, inframe insertion, intron variant
rs1282433424	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1405855570	A>G	Likely-pathogenic	Splice acceptor variant, 5 prime UTR variant, synonymous variant, coding sequence variant
rs1554498312	T>C	Pathogenic	Intron variant
rs1554498708	G>A	Pathogenic	Intron variant
rs1585684790	G>C	Pathogenic	Coding sequence variant, missense variant
rs1585703301	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1585706802	CTC>TG	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(97)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000393	hsa-miR-1-3p	Luciferase reporter assay	19188439
MIRT004008	hsa-miR-200b-3p	Microarray	17875710
MIRT006808	hsa-miR-26b-5p	Immunocytochemistry, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	22219180
MIRT047394	hsa-miR-34a-5p	CLASH	23622248
MIRT004008	hsa-miR-200b-3p	Flow, qRT-PCR, Western blot	23558708
MIRT438134	hsa-miR-200c-3p	Flow, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	24365599
MIRT438134	hsa-miR-200c-3p	Flow, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	24365599
MIRT438134	hsa-miR-200c-3p	Flow, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	24365599
MIRT438134	hsa-miR-200c-3p	Flow, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	24365599
MIRT438134	hsa-miR-200c-3p	Flow, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	24365599
MIRT438134	hsa-miR-200c-3p	Flow, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	24365599
MIRT735854	hsa-miR-200a-3p	qRT-PCR, ELISA	32691634
MIRT1012684	hsa-miR-1289	CLIP-seq
MIRT1012685	hsa-miR-1298	CLIP-seq
MIRT1012686	hsa-miR-15a	CLIP-seq
MIRT1012687	hsa-miR-15b	CLIP-seq
MIRT1012688	hsa-miR-16	CLIP-seq
MIRT1012689	hsa-miR-1909	CLIP-seq
MIRT1012690	hsa-miR-195	CLIP-seq
MIRT1012691	hsa-miR-3125	CLIP-seq
MIRT1012692	hsa-miR-3135b	CLIP-seq
MIRT1012693	hsa-miR-3181	CLIP-seq
MIRT1012694	hsa-miR-3198	CLIP-seq
MIRT1012695	hsa-miR-338-3p	CLIP-seq
MIRT1012696	hsa-miR-3652	CLIP-seq
MIRT1012697	hsa-miR-3670	CLIP-seq
MIRT1012698	hsa-miR-3916	CLIP-seq
MIRT1012699	hsa-miR-3944-3p	CLIP-seq
MIRT1012700	hsa-miR-424	CLIP-seq
MIRT1012701	hsa-miR-4251	CLIP-seq
MIRT1012702	hsa-miR-4294	CLIP-seq
MIRT1012703	hsa-miR-4309	CLIP-seq
MIRT1012704	hsa-miR-4430	CLIP-seq
MIRT1012705	hsa-miR-4463	CLIP-seq
MIRT1012706	hsa-miR-4468	CLIP-seq
MIRT1012707	hsa-miR-4476	CLIP-seq
MIRT1012708	hsa-miR-4492	CLIP-seq
MIRT1012709	hsa-miR-4494	CLIP-seq
MIRT1012710	hsa-miR-4498	CLIP-seq
MIRT1012711	hsa-miR-4530	CLIP-seq
MIRT1012712	hsa-miR-4533	CLIP-seq
MIRT1012713	hsa-miR-4688	CLIP-seq
MIRT1012714	hsa-miR-4711-5p	CLIP-seq
MIRT1012715	hsa-miR-4750	CLIP-seq
MIRT1012716	hsa-miR-486-3p	CLIP-seq
MIRT1012717	hsa-miR-497	CLIP-seq
MIRT1012718	hsa-miR-539	CLIP-seq
MIRT1012719	hsa-miR-583	CLIP-seq
MIRT1012720	hsa-miR-615-5p	CLIP-seq
MIRT1012721	hsa-miR-659	CLIP-seq
MIRT1012722	hsa-miR-762	CLIP-seq
MIRT1012723	hsa-miR-766	CLIP-seq
MIRT1012724	hsa-miR-892b	CLIP-seq
MIRT1012725	hsa-miR-922	CLIP-seq
MIRT1999940	hsa-miR-1470	CLIP-seq
MIRT1999941	hsa-miR-1538	CLIP-seq
MIRT1999942	hsa-miR-3918	CLIP-seq
MIRT1999943	hsa-miR-4256	CLIP-seq
MIRT1999944	hsa-miR-4290	CLIP-seq
MIRT1999945	hsa-miR-4745-3p	CLIP-seq
MIRT1999946	hsa-miR-4769-3p	CLIP-seq
MIRT1999947	hsa-miR-4779	CLIP-seq
MIRT1999948	hsa-miR-604	CLIP-seq
MIRT1999949	hsa-miR-647	CLIP-seq
MIRT2233366	hsa-miR-122	CLIP-seq
MIRT1012684	hsa-miR-1289	CLIP-seq
MIRT2233367	hsa-miR-1290	CLIP-seq
MIRT2233368	hsa-miR-1324	CLIP-seq
MIRT2233369	hsa-miR-200b	CLIP-seq
MIRT2233370	hsa-miR-200c	CLIP-seq
MIRT2233371	hsa-miR-208a	CLIP-seq
MIRT2233372	hsa-miR-208b	CLIP-seq
MIRT2233373	hsa-miR-2467-3p	CLIP-seq
MIRT2233374	hsa-miR-3159	CLIP-seq
MIRT2233375	hsa-miR-3166	CLIP-seq
MIRT2233376	hsa-miR-3175	CLIP-seq
MIRT2233377	hsa-miR-3180-5p	CLIP-seq
MIRT2233378	hsa-miR-3184	CLIP-seq
MIRT1012694	hsa-miR-3198	CLIP-seq
MIRT2233379	hsa-miR-3617	CLIP-seq
MIRT2233380	hsa-miR-423-5p	CLIP-seq
MIRT2233381	hsa-miR-4266	CLIP-seq
MIRT2233382	hsa-miR-429	CLIP-seq
MIRT1012702	hsa-miR-4294	CLIP-seq
MIRT1012703	hsa-miR-4309	CLIP-seq
MIRT1012706	hsa-miR-4468	CLIP-seq
MIRT2233383	hsa-miR-4514	CLIP-seq
MIRT2233384	hsa-miR-4645-5p	CLIP-seq
MIRT2233385	hsa-miR-4673	CLIP-seq
MIRT2233386	hsa-miR-4692	CLIP-seq
MIRT2233387	hsa-miR-4695-5p	CLIP-seq
MIRT1999947	hsa-miR-4779	CLIP-seq
MIRT2233388	hsa-miR-499-5p	CLIP-seq
MIRT2233389	hsa-miR-5096	CLIP-seq
MIRT2233390	hsa-miR-641	CLIP-seq
MIRT2233391	hsa-miR-765	CLIP-seq
MIRT2388369	hsa-miR-365	CLIP-seq

Transcription factors

Show/Hide all(6)

Transcription factor	Regulation	Reference
HAND2	Unknown	11994297
HEY1	Repression	16199874
HEY2	Repression	16199874
MYC	Activation	23239811
NANOG	Repression	15983365
NKX2-5	Activation	19479054

Show/Hide all(93)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	9566909
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IGI	21330551
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	IDA	21220346
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	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0001216	Function	DNA-binding transcription activator activity	IDA	29325903
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	21220346
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IGI	21330551
GO:0001947	Process	Heart looping	ISS
GO:0003162	Process	Atrioventricular node development	NAS	26786210
GO:0003180	Process	Aortic valve morphogenesis	IMP	29325903
GO:0003190	Process	Atrioventricular valve formation	ISS
GO:0003197	Process	Endocardial cushion development	IMP	21330551
GO:0003197	Process	Endocardial cushion development	ISS
GO:0003208	Process	Cardiac ventricle morphogenesis	TAS	20347099
GO:0003215	Process	Cardiac right ventricle morphogenesis	ISS
GO:0003281	Process	Ventricular septum development	ISS
GO:0003289	Process	Atrial septum primum morphogenesis	ISS
GO:0003290	Process	Atrial septum secundum morphogenesis	IMP	20347099
GO:0003677	Function	DNA binding	IDA	24000169
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	ISS
GO:0003700	Function	DNA-binding transcription factor activity	IDA	9312027
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	9312027, 10075728, 12845333, 15485867, 16199874, 17053787, 21220346, 24000169, 35182466
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	21220346
GO:0005634	Component	Nucleus	IDA	9566909, 24000169
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	12845333
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007267	Process	Cell-cell signaling	ISS
GO:0007492	Process	Endoderm development	TAS	20347099
GO:0007507	Process	Heart development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008584	Process	Male gonad development	IEP	17848411
GO:0008584	Process	Male gonad development	IMP	21220346
GO:0009410	Process	Response to xenobiotic stimulus	IMP	20585342
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009888	Process	Tissue development	IEA
GO:0010507	Process	Negative regulation of autophagy	IEA
GO:0010575	Process	Positive regulation of vascular endothelial growth factor production	ISS
GO:0010667	Process	Negative regulation of cardiac muscle cell apoptotic process	ISS
GO:0016604	Component	Nuclear body	IDA
GO:0019901	Function	Protein kinase binding	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030513	Process	Positive regulation of BMP signaling pathway	IEA
GO:0033189	Process	Response to vitamin A	IEA
GO:0035054	Process	Embryonic heart tube anterior/posterior pattern specification	ISS
GO:0036302	Process	Atrioventricular canal development	NAS	26786210
GO:0042060	Process	Wound healing	ISS
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	ISS
GO:0045165	Process	Cell fate commitment	IBA
GO:0045766	Process	Positive regulation of angiogenesis	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	24000169
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	21330551, 29325903
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS	12845333
GO:0046872	Function	Metal ion binding	IEA
GO:0048617	Process	Embryonic foregut morphogenesis	ISS
GO:0051525	Function	NFAT protein binding	IEA
GO:0055007	Process	Cardiac muscle cell differentiation	IEA
GO:0060290	Process	Transdifferentiation	IEA
GO:0060413	Process	Atrial septum morphogenesis	IMP	12845333
GO:0060575	Process	Intestinal epithelial cell differentiation	IDA	9566909
GO:0061026	Process	Cardiac muscle tissue regeneration	ISS
GO:0061049	Process	Cell growth involved in cardiac muscle cell development	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	9858576, 21330551
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	ISS
GO:0070410	Function	Co-SMAD binding	IPI	21330551
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0086004	Process	Regulation of cardiac muscle cell contraction	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IDA	9312027
GO:0140297	Function	DNA-binding transcription factor binding	IEA
GO:1902176	Process	Negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2001234	Process	Negative regulation of apoptotic signaling pathway	ISS

MIM	HGNC	e!Ensembl
600576	4173	ENSG00000136574

Protein

UniProt ID

P43694

Protein name

Transcription factor GATA-4 (GATA-binding factor 4)

Protein function

Transcriptional activator that binds to the consensus sequence 5'-AGATAG-3' and plays a key role in cardiac development and function (PubMed:24000169, PubMed:27984724, PubMed:35182466). In cooperation with TBX5, it binds to cardiac super-enhance

PDB

2M9W , 8VG0 , 8VG1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05349	GATA-N	1 → 205	GATA-type transcription activator, N-terminal	Family
PF00320	GATA	217 → 251	GATA zinc finger	Domain
PF00320	GATA	271 → 305	GATA zinc finger	Domain

Sequence

MYQSLAMAANHGPPPGAYEAGGPGAFMHGAGAASSPVYVPTPRVPSSVLGLSYLQGGGAG
SASGGASGGSSGGAASGAGPGTQQGSPGWSQAGADGAAYTPPPVSPRFSFPGTTGSLAAA
AAAAAAREAAAYSSGGGAAGAGLAGREQYGRAGFAGSYSSPYPAYMADVGASWAAAAAAS
AGPFDSPVLHSLPGRANPAARHPNLDMFDDFSEGRECVNCGAMSTPLWRRDGTGHYLCNA
CGLYHKMNGINRPLIKPQRRLSASRRVGLSCANCQTTTTTLWRRNAEGEPVCNACGLYMK
LHGVPRPLAMRKEGIQTRKRKPKNLNKSKTPAAPSGSESLPPASGASSNSSNATTSSSEE
MRPIKTEPGLSSHYGHSSSVSQTFSVSAMSGHGPSIHPVLSALKLSPQGYASPVSQSPQT
SSKQDSWNSLVLADSHGDIITA

Sequence length

442

Interactions

View interactions

	KEGG		Reactome
	cGMP-PKG signaling pathway Cellular senescence Tight junction Thyroid hormone signaling pathway		YAP1- and WWTR1 (TAZ)-stimulated gene expression Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) Physiological factors Factors involved in megakaryocyte development and platelet production

Show/Hide Causal Diseases (6)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
46, XY Sex Reversal	46,xy sex reversal 3	rs1585684790	N/A
Atrial Septal Defect	atrial septal defect 2	rs104894073, rs1585703301, rs104894074	N/A
Atrioventricular septal defect	atrioventricular septal defect 4	rs104894073	N/A
Congenital Heart Disease	congenital heart disease	rs864321702, rs864321705, rs864321704, rs1554498312, rs864321698, rs864321703, rs864321700, rs864321701	N/A
TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE	testicular anomalies with or without congenital heart disease	rs398122402	N/A
Ventricular septal defect	ventricular septal defect 1	rs104894073	N/A

Show/Hide Unknown Diseases (19)

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.
46, XY partial gonadal dysgenesis	46,XY partial gonadal dysgenesis	N/A	N/A	GenCC
Atrial Fibrillation	Atrial fibrillation, familial atrial fibrillation	N/A	N/A	GWAS, GenCC
Brugada Syndrome	Brugada syndrome	N/A	N/A	GWAS
Cardiomyopathy	Primary dilated cardiomyopathy	N/A	N/A	ClinVar
Cholelithiasis	Cholelithiasis	N/A	N/A	GWAS
Frontotemporal dementia	Frontotemporal dementia	N/A	N/A	GWAS
Hypertension	Hypertension (confirmatory factor analysis Factor 12), Hypertension	N/A	N/A	GWAS
Male infertility	male infertility with azoospermia or oligozoospermia due to single gene mutation	N/A	N/A	ClinVar
Mental retardation	intellectual disability	N/A	N/A	ClinVar
Metabolic Syndrome	metabolic syndrome	N/A	N/A	GenCC
Microcephaly	microcephaly	N/A	N/A	ClinVar
Myopathy	dilated cardiomyopathy	N/A	N/A	GenCC
Neuroticism	Neuroticism	N/A	N/A	GWAS
Polycystic Ovary Syndrome	Polycystic ovary syndrome	N/A	N/A	GWAS
Renal Cysts And Diabetes Syndrome	renal cysts and diabetes syndrome	N/A	N/A	ClinVar
Systemic lupus erythematosus	Systemic lupus erythematosus	N/A	N/A	GWAS
Testicular Germ Cell Tumor	Testicular germ cell tumor	N/A	N/A	GWAS
Tetralogy of Fallot	tetralogy of fallot	N/A	N/A	ClinVar, GenCC
thoracic aortic aneurysm	Thoracic aortic aneurysm	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (131)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
46 XY female	Associate	31962012
6q24 Related Transient Neonatal Diabetes Mellitus	Associate	24696446, 33865372
Abnormalities Drug Induced	Associate	19606479
Abortion Habitual	Associate	40430071
Adenocarcinoma	Associate	28052061, 33547361
Adenocarcinoma of Lung	Associate	23239811
Adenoma	Associate	21154739
Alcoholism	Associate	29415147
Anxiety	Associate	29415147
Aortic Coarctation	Associate	30834692, 37635136
Arrhythmias Cardiac	Associate	27707468, 33413087
Astrocytoma	Associate	37372326
Atrial Fibrillation	Associate	30061737
Atrial Septal Defect 1	Associate	17592645
Azoospermia	Associate	32859868
Barrett Esophagus	Associate	33547361
Bicuspid Aortic Valve Disease	Associate	28541271, 32748548, 39240962
Borderline Personality Disorder	Associate	24367640
Brain Ischemia	Stimulate	22363514
Breast Neoplasms	Associate	19276186, 22362584, 24862985, 28747748
Brugada Syndrome	Associate	27707468
Capillary Malformation Arteriovenous Malformation	Associate	20592452
Carcinogenesis	Associate	17912029, 20222162, 23320456
Carcinoma Ductal	Associate	24862985
Carcinoma Endometrioid	Associate	24145767
Carcinoma Hepatocellular	Inhibit	34583732
Carcinoma Intraductal Noninfiltrating	Associate	24862985
Carcinoma Ovarian Epithelial	Associate	24145767
Carcinoma Pancreatic Ductal	Associate	19918328
Carcinoma Renal Cell	Associate	36961416
Cardiac Conduction System Disease	Associate	36070930
Cardiomegaly	Associate	17284439, 35173540, 37219631, 38296564
Cardiomyopathies	Associate	27984724
Cardiomyopathy Dilated	Stimulate	20388650
Cardiomyopathy Dilated	Associate	24041700, 25725155, 28690296, 36346048
Cardiomyopathy Hypertrophic	Associate	17284439, 35173540, 37219631
Cardiovascular Abnormalities	Associate	38049901
Cardiovascular Diseases	Associate	24330461, 24681789
Chromosome 8 monosomy 8p23 1	Associate	20592452
Colorectal Neoplasms	Associate	14612389, 17167178, 19053175, 22719836, 38092774
Conotruncal cardiac defects	Associate	24127225
Coronary Artery Disease	Associate	24330461, 24681789
Cryptorchidism	Associate	27899089
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	19606479
Diabetes Mellitus	Associate	24696446, 38408297
Diabetes Mellitus Type 2	Associate	33865372
Disease	Associate	27984724
Disorder of Sex Development 46 XY	Associate	31962012
Disorders of Sex Development	Associate	21220346, 31962012, 35432193
DNA Virus Infections	Associate	29565449
Double Outlet Right Ventricle	Associate	30834692
Down Syndrome	Associate	25587870
Ductus Arteriosus Patent	Associate	27418595
Dysgerminoma	Associate	16110260
Dysplastic Nevus Syndrome	Associate	18405344
Epileptic Syndromes	Associate	24330461
Esophageal Neoplasms	Associate	36588538
Exocrine Pancreatic Insufficiency	Associate	24696446
familial dilated cardiomyopathy	Associate	24041700, 36346048
Foramen Ovale Patent	Associate	21673957
Gastrointestinal Neoplasms	Associate	14612389
Glioblastoma	Associate	23320456, 37372326
Glioma	Associate	27598297, 35845958
Gonadal Dysgenesis 46 XY	Associate	40290305
Granulosa Cell Tumor	Associate	23029311, 24416423, 24687970
Granulosa cell tumor of the ovary	Associate	24687970, 28727617
Heart Defects Congenital	Associate	17592645, 18055909, 20592452, 22011241, 22318994, 23626780, 23979609, 24041700, 24696446, 25205790, 25587870, 26014430, 26865696, 27118528, 27391137 View all (17 more)
Heart Diseases	Associate	17284439, 20592452, 23626780, 25929466, 26014430, 29590644, 36070930, 37635136, 38049901, 40290305
Heart Failure	Associate	17284439, 22363514, 35173540, 35418170
Heart Septal Defects	Associate	18055909, 20592452, 27984724, 28263493, 40430071
Heart Septal Defects Atrial	Associate	18055909, 20347099, 27418595, 33413087, 40430071
Heart Septal Defects Ventricular	Associate	18055909, 22648249, 33757570, 40430071
Helicobacter Infections	Associate	20222162
Hepatitis B	Stimulate	34583732
Hepatoblastoma	Associate	28349834, 30074440
Hernias Diaphragmatic Congenital	Associate	19606479
Hypertension	Associate	24330461
Hypertrophy	Associate	17284439, 35173540, 38296564
Hypogonadism and Testicular Atrophy	Associate	32859868
Infertility	Associate	32859868
Inflammation	Associate	28068351, 35491409
Insulin Resistance	Associate	27477082
Intellectual Disability	Associate	20592452
Leukemia Myeloid Acute	Associate	26490736
Lung Neoplasms	Associate	18332107, 29565449, 32138766
Lymphoma Large B Cell Diffuse	Associate	18288132
Melanoma	Associate	19223509, 21081840
Meningioma	Associate	32810829
Metabolic Syndrome	Associate	24330461
Microcephaly	Associate	20592452
Myocardial Infarction	Associate	24330461
Myotonic Dystrophy	Associate	35751644
Myxoma	Associate	12163362
Neoplasm Metastasis	Associate	23239811, 31744494
Neoplasm Metastasis	Stimulate	24862985
Neoplasms	Inhibit	17229543, 18405344, 23320456, 23746174, 26490736, 30142155
Neoplasms	Associate	18288132, 19223509, 19276186, 19707195, 20098741, 24145767, 24477574, 31405379, 33547361, 37284741
Neuroblastoma	Associate	19707195
Noonan Syndrome	Associate	33549576
Obesity	Associate	24330461
Orofaciodigital syndrome 11	Associate	20592452
Osteoporosis	Associate	29590644
Ovarian Diseases	Associate	24145767
Ovarian Neoplasms	Associate	11304571, 16110260, 16607277, 23746174, 24145767, 24416423, 24687970, 28241454, 32886452, 37284741
Ovarian Neoplasms	Stimulate	35488350
Pancreatic Neoplasms	Associate	17912029, 24696446, 30142155
Pancreatic Neoplasms	Stimulate	19918328
Periodontitis	Associate	35491409
Polycystic Ovary Syndrome	Associate	28068351
Primary Ovarian Insufficiency	Associate	19918328
Pulmonary Valve Stenosis	Associate	40430071
Retinal Dysplasia	Associate	20222162, 21154739
Rhabdomyosarcoma	Associate	22419069
Schmid Fraccaro syndrome	Associate	22929023
Septate Uterus	Associate	27984724
Sertoli Leydig Cell Tumor	Associate	23029311
Sex Cord Gonadal Stromal Tumors	Associate	23029311
Sexual Dysfunctions Psychological	Associate	26381449
Squamous Cell Carcinoma of Head and Neck	Associate	31405379
Stomach Neoplasms	Associate	14612389, 17229543, 20222162
Stroke	Associate	21673957
Syncope	Associate	28849052
Tachycardia	Associate	33413087
Testicular Diseases	Associate	21220346
Tetralogy of Fallot	Associate	18055909, 20592452, 24182332, 28553164, 30766556
Thecoma	Associate	23029311
Transposition of Great Vessels	Associate	37635136
Urogenital Abnormalities	Associate	30690934
Uterine Cervical Neoplasms	Associate	36263185
Uveal melanoma	Associate	36459980
Vitamin K Deficiency Bleeding	Associate	37635136

GATA4 (GATA binding protein 4)