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

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	1050
Gene name	CCAAT enhancer binding protein alpha
Gene symbol	CEBPA
Synonyms (NCBI Gene)	C/EBP-alphaCEBP
Chromosome	19
Chromosome location	19q13.11
Summary	This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-b

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miRTarBase ID	miRNA	Experiments	Reference
MIRT002025	hsa-miR-124-3p	Western blotReporter assay	18451139
MIRT002025	hsa-miR-124-3p	Luciferase reporter assay	18451139
MIRT000390	hsa-miR-1-3p	Luciferase reporter assay	18818206
MIRT002025	hsa-miR-124-3p	Review	20029422
MIRT002025	hsa-miR-124-3p	Review	20029422
MIRT002025	hsa-miR-124-3p	Microarray	15685193
MIRT005488	hsa-miR-138-5p	qRT-PCR	20486779
MIRT045932	hsa-miR-125b-5p	CLASH	23622248
MIRT038606	hsa-miR-193a-5p	CLASH	23622248
MIRT037622	hsa-miR-744-5p	CLASH	23622248
MIRT036497	hsa-miR-1226-3p	CLASH	23622248
MIRT045932	hsa-miR-125b-5p	Luciferase reporter assayqRT-PCRWestern blot	25982911
MIRT883192	hsa-miR-124	CLIP-seq
MIRT883193	hsa-miR-1256	CLIP-seq
MIRT883194	hsa-miR-1269	CLIP-seq
MIRT883195	hsa-miR-1269b	CLIP-seq
MIRT883196	hsa-miR-1271	CLIP-seq
MIRT883197	hsa-miR-1288	CLIP-seq
MIRT883198	hsa-miR-154	CLIP-seq
MIRT883199	hsa-miR-182	CLIP-seq
MIRT883200	hsa-miR-1827	CLIP-seq
MIRT883201	hsa-miR-199a-3p	CLIP-seq
MIRT883202	hsa-miR-199b-3p	CLIP-seq
MIRT883203	hsa-miR-22	CLIP-seq
MIRT883204	hsa-miR-31	CLIP-seq
MIRT883205	hsa-miR-3129-5p	CLIP-seq
MIRT883206	hsa-miR-3163	CLIP-seq
MIRT883207	hsa-miR-3173-3p	CLIP-seq
MIRT883208	hsa-miR-3184	CLIP-seq
MIRT883209	hsa-miR-33a	CLIP-seq
MIRT883210	hsa-miR-33b	CLIP-seq
MIRT883211	hsa-miR-3612	CLIP-seq
MIRT883212	hsa-miR-361-3p	CLIP-seq
MIRT883213	hsa-miR-3616-3p	CLIP-seq
MIRT883214	hsa-miR-3622a-5p	CLIP-seq
MIRT883215	hsa-miR-3662	CLIP-seq
MIRT883216	hsa-miR-3667-3p	CLIP-seq
MIRT883217	hsa-miR-3672	CLIP-seq
MIRT883218	hsa-miR-3676	CLIP-seq
MIRT883219	hsa-miR-3679-3p	CLIP-seq
MIRT883220	hsa-miR-3713	CLIP-seq
MIRT883221	hsa-miR-384	CLIP-seq
MIRT883222	hsa-miR-3910	CLIP-seq
MIRT883223	hsa-miR-3925-5p	CLIP-seq
MIRT883224	hsa-miR-423-5p	CLIP-seq
MIRT883225	hsa-miR-4326	CLIP-seq
MIRT883226	hsa-miR-4428	CLIP-seq
MIRT883227	hsa-miR-4457	CLIP-seq
MIRT883228	hsa-miR-4492	CLIP-seq
MIRT883229	hsa-miR-4493	CLIP-seq
MIRT883230	hsa-miR-4496	CLIP-seq
MIRT883231	hsa-miR-4498	CLIP-seq
MIRT883232	hsa-miR-4515	CLIP-seq
MIRT883233	hsa-miR-4533	CLIP-seq
MIRT883234	hsa-miR-4540	CLIP-seq
MIRT883235	hsa-miR-4690-3p	CLIP-seq
MIRT883236	hsa-miR-4695-5p	CLIP-seq
MIRT883237	hsa-miR-4713-5p	CLIP-seq
MIRT883238	hsa-miR-4721	CLIP-seq
MIRT883239	hsa-miR-4728-3p	CLIP-seq
MIRT883240	hsa-miR-4740-5p	CLIP-seq
MIRT883241	hsa-miR-4743	CLIP-seq
MIRT883242	hsa-miR-4747-5p	CLIP-seq
MIRT883243	hsa-miR-4797-3p	CLIP-seq
MIRT883244	hsa-miR-506	CLIP-seq
MIRT883245	hsa-miR-510	CLIP-seq
MIRT883246	hsa-miR-512-5p	CLIP-seq
MIRT883247	hsa-miR-554	CLIP-seq
MIRT883248	hsa-miR-589	CLIP-seq
MIRT883249	hsa-miR-615-3p	CLIP-seq
MIRT883250	hsa-miR-624	CLIP-seq
MIRT883251	hsa-miR-650	CLIP-seq
MIRT883252	hsa-miR-670	CLIP-seq
MIRT883253	hsa-miR-762	CLIP-seq
MIRT883254	hsa-miR-936	CLIP-seq
MIRT883255	hsa-miR-940	CLIP-seq
MIRT883256	hsa-miR-96	CLIP-seq
MIRT1961874	hsa-miR-101	CLIP-seq
MIRT1961875	hsa-miR-1225-3p	CLIP-seq
MIRT1961876	hsa-miR-1233	CLIP-seq
MIRT883194	hsa-miR-1269	CLIP-seq
MIRT883195	hsa-miR-1269b	CLIP-seq
MIRT883197	hsa-miR-1288	CLIP-seq
MIRT1961877	hsa-miR-144	CLIP-seq
MIRT883198	hsa-miR-154	CLIP-seq
MIRT1961878	hsa-miR-28-3p	CLIP-seq
MIRT883211	hsa-miR-3612	CLIP-seq
MIRT883218	hsa-miR-3676	CLIP-seq
MIRT883221	hsa-miR-384	CLIP-seq
MIRT883222	hsa-miR-3910	CLIP-seq
MIRT1961879	hsa-miR-4267	CLIP-seq
MIRT1961880	hsa-miR-4270	CLIP-seq
MIRT1961881	hsa-miR-4271	CLIP-seq
MIRT1961882	hsa-miR-4290	CLIP-seq
MIRT1961883	hsa-miR-4323	CLIP-seq
MIRT883225	hsa-miR-4326	CLIP-seq
MIRT1961884	hsa-miR-4434	CLIP-seq
MIRT1961885	hsa-miR-4441	CLIP-seq
MIRT883227	hsa-miR-4457	CLIP-seq
MIRT883228	hsa-miR-4492	CLIP-seq
MIRT883229	hsa-miR-4493	CLIP-seq
MIRT883231	hsa-miR-4498	CLIP-seq
MIRT1961886	hsa-miR-4505	CLIP-seq
MIRT883232	hsa-miR-4515	CLIP-seq
MIRT1961887	hsa-miR-4516	CLIP-seq
MIRT1961888	hsa-miR-4667-3p	CLIP-seq
MIRT1961889	hsa-miR-4687-5p	CLIP-seq
MIRT883235	hsa-miR-4690-3p	CLIP-seq
MIRT1961890	hsa-miR-4690-5p	CLIP-seq
MIRT1961891	hsa-miR-4695-3p	CLIP-seq
MIRT883236	hsa-miR-4695-5p	CLIP-seq
MIRT883237	hsa-miR-4713-5p	CLIP-seq
MIRT1961892	hsa-miR-4725-3p	CLIP-seq
MIRT883239	hsa-miR-4728-3p	CLIP-seq
MIRT1961893	hsa-miR-4731-5p	CLIP-seq
MIRT883240	hsa-miR-4740-5p	CLIP-seq
MIRT1961894	hsa-miR-4786-3p	CLIP-seq
MIRT883250	hsa-miR-624	CLIP-seq
MIRT883251	hsa-miR-650	CLIP-seq
MIRT883252	hsa-miR-670	CLIP-seq
MIRT883253	hsa-miR-762	CLIP-seq
MIRT883192	hsa-miR-124	CLIP-seq
MIRT883196	hsa-miR-1271	CLIP-seq
MIRT2198431	hsa-miR-139-3p	CLIP-seq
MIRT2198432	hsa-miR-181a	CLIP-seq
MIRT2198433	hsa-miR-181b	CLIP-seq
MIRT2198434	hsa-miR-181c	CLIP-seq
MIRT2198435	hsa-miR-181d	CLIP-seq
MIRT883199	hsa-miR-182	CLIP-seq
MIRT2198436	hsa-miR-23a	CLIP-seq
MIRT2198437	hsa-miR-23b	CLIP-seq
MIRT2198438	hsa-miR-23c	CLIP-seq
MIRT2198439	hsa-miR-25	CLIP-seq
MIRT2198440	hsa-miR-299-5p	CLIP-seq
MIRT2198441	hsa-miR-300	CLIP-seq
MIRT883204	hsa-miR-31	CLIP-seq
MIRT883206	hsa-miR-3163	CLIP-seq
MIRT2198442	hsa-miR-32	CLIP-seq
MIRT2198443	hsa-miR-323-5p	CLIP-seq
MIRT2198444	hsa-miR-363	CLIP-seq
MIRT883215	hsa-miR-3662	CLIP-seq
MIRT2198445	hsa-miR-367	CLIP-seq
MIRT883220	hsa-miR-3713	CLIP-seq
MIRT2198446	hsa-miR-381	CLIP-seq
MIRT2198447	hsa-miR-3939	CLIP-seq
MIRT2198448	hsa-miR-4262	CLIP-seq
MIRT883227	hsa-miR-4457	CLIP-seq
MIRT2198449	hsa-miR-4524	CLIP-seq
MIRT1961893	hsa-miR-4731-5p	CLIP-seq
MIRT2198450	hsa-miR-486-3p	CLIP-seq
MIRT883244	hsa-miR-506	CLIP-seq
MIRT2198451	hsa-miR-522	CLIP-seq
MIRT2198452	hsa-miR-548aa	CLIP-seq
MIRT2198453	hsa-miR-548p	CLIP-seq
MIRT883249	hsa-miR-615-3p	CLIP-seq
MIRT2198454	hsa-miR-876-3p	CLIP-seq
MIRT2198455	hsa-miR-92a	CLIP-seq
MIRT2198456	hsa-miR-92b	CLIP-seq
MIRT883256	hsa-miR-96	CLIP-seq
MIRT883228	hsa-miR-4492	CLIP-seq
MIRT883231	hsa-miR-4498	CLIP-seq
MIRT1961886	hsa-miR-4505	CLIP-seq
MIRT1961893	hsa-miR-4731-5p	CLIP-seq
MIRT883253	hsa-miR-762	CLIP-seq
MIRT1961880	hsa-miR-4270	CLIP-seq
MIRT1961884	hsa-miR-4434	CLIP-seq
MIRT1961885	hsa-miR-4441	CLIP-seq
MIRT1961887	hsa-miR-4516	CLIP-seq
MIRT1961894	hsa-miR-4786-3p	CLIP-seq
MIRT1961880	hsa-miR-4270	CLIP-seq
MIRT1961884	hsa-miR-4434	CLIP-seq
MIRT1961885	hsa-miR-4441	CLIP-seq
MIRT1961887	hsa-miR-4516	CLIP-seq
MIRT1961894	hsa-miR-4786-3p	CLIP-seq

Show/Hide all (8)

Transcription factor	Regulation	Reference
DDIT3	Repression	21983012
GATA1	Repression	19825991
LEF1	Unknown	19620402
MYB	Unknown	10706719
MYC	Repression	19259613
MYC	Unknown	15867211
PPARG	Unknown	15867211
ZBTB16	Unknown	19723763

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000050	Process	Urea cycle	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISO
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	12695546, 28186500
GO:0000976	Function	Transcription cis-regulatory region binding	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	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001163	Function	RNA polymerase I transcription regulatory region sequence-specific DNA binding	IDA	20075868
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	16946298
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001889	Process	Liver development	IEA
GO:0001889	Process	Liver development	IEA
GO:0001889	Process	Liver development	ISS
GO:0001892	Process	Embryonic placenta development	IEA
GO:0002070	Process	Epithelial cell maturation	IEA
GO:0002076	Process	Osteoblast development	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	8643605
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	11242107, 12695546, 15664994
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	1535333, 9191024
GO:0005515	Function	Protein binding	IPI	12692227, 15107404, 16490787, 19059241, 20102225, 23661758, 23814099, 26455797, 33961781
GO:0005634	Component	Nucleus	IDA	11242107
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005634	Component	Nucleus	NAS	8657121, 20102225, 23661758
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IDA	24429361
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005730	Component	Nucleolus	IDA	20075868
GO:0005730	Component	Nucleolus	IEA
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	8643605
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	15664994
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	20102225, 23661758
GO:0006360	Process	Transcription by RNA polymerase I	IDA	20075868
GO:0006953	Process	Acute-phase response	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007584	Process	Response to nutrient	IEA
GO:0007613	Process	Memory	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	14660596
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	ISS
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0016363	Component	Nuclear matrix	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	NAS	15664994
GO:0019900	Function	Kinase binding	IEA
GO:0019900	Function	Kinase binding	IPI	15107404
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030099	Process	Myeloid cell differentiation	IBA
GO:0030099	Process	Myeloid cell differentiation	IEA
GO:0030099	Process	Myeloid cell differentiation	NAS	15664994
GO:0030154	Process	Cell differentiation	IEA
GO:0030225	Process	Macrophage differentiation	IEA
GO:0030324	Process	Lung development	IEA
GO:0030324	Process	Lung development	ISS
GO:0030851	Process	Granulocyte differentiation	IEA
GO:0030851	Process	Granulocyte differentiation	ISS
GO:0031100	Process	Animal organ regeneration	IEA
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	TAS	14685163
GO:0032991	Component	Protein-containing complex	IEA
GO:0033274	Process	Response to vitamin B2	IEA
GO:0035189	Component	Rb-E2F complex	IEA
GO:0036488	Component	CHOP-C/EBP complex	IEA
GO:0036488	Component	CHOP-C/EBP complex	IPI	20102225
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042593	Process	Glucose homeostasis	ISS
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	20102225, 23661758
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0042826	Function	Histone deacetylase binding	IEA
GO:0043032	Process	Positive regulation of macrophage activation	IEA
GO:0043032	Process	Positive regulation of macrophage activation	ISS
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	ISS
GO:0045600	Process	Positive regulation of fat cell differentiation	IEA
GO:0045600	Process	Positive regulation of fat cell differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045786	Process	Negative regulation of cell cycle	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	7959007
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	11242107, 12695546, 20972335
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	24429361
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	16946298
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0048839	Process	Inner ear development	IEA
GO:0050729	Process	Positive regulation of inflammatory response	IEA
GO:0050729	Process	Positive regulation of inflammatory response	ISS
GO:0050872	Process	White fat cell differentiation	IEA
GO:0050873	Process	Brown fat cell differentiation	IEA
GO:0051726	Process	Regulation of cell cycle	TAS	14685163
GO:0055088	Process	Lipid homeostasis	IEA
GO:0055088	Process	Lipid homeostasis	ISS
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	24429361
GO:0070102	Process	Interleukin-6-mediated signaling pathway	IDA	24429361
GO:0070343	Process	White fat cell proliferation	ISS	36228616
GO:0071285	Process	Cellular response to lithium ion	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0071425	Process	Hematopoietic stem cell proliferation	IEA
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA
GO:0071548	Process	Response to dexamethasone	IEA
GO:0071837	Function	HMG box domain binding	IEA
GO:0080184	Process	Response to phenylpropanoid	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IMP	16946298
GO:0090575	Component	RNA polymerase II transcription regulator complex	IPI	20102225, 23661758
GO:0097009	Process	Energy homeostasis	IEA
GO:0097009	Process	Energy homeostasis	ISS
GO:0097009	Process	Energy homeostasis	ISS
GO:0097677	Function	STAT family protein binding	IPI	15664994, 24429361
GO:0140297	Function	DNA-binding transcription factor binding	IEA
GO:0140467	Process	Integrated stress response signaling	NAS	28566324
GO:1902034	Process	Negative regulation of hematopoietic stem cell proliferation	IEA
GO:1990647	Component	C/EBP complex	IPI	20102225
GO:2000144	Process	Positive regulation of DNA-templated transcription initiation	IDA	28186500

MIM	HGNC	e!Ensembl
116897	1833	ENSG00000245848

P49715

Protein name

CCAAT/enhancer-binding protein alpha (C/EBP alpha)

Protein function

Transcription factor that coordinates proliferation arrest and the differentiation of myeloid progenitors, adipocytes, hepatocytes, and cells of the lung and the placenta. Binds directly to the consensus DNA sequence 5'-T[TG]NNGNAA[TG]-3' acting

PDB

6DC0 , 8K8C

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07716	bZIP_2	281 → 334	Basic region leucine zipper	Coiled-coil

Sequence

MESADFYEAEPRPPMSSHLQSPPHAPSSAAFGFPRGAGPAQPPAPPAAPEPLGGICEHET
SIDISAYIDPAAFNDEFLADLFQHSRQQEKAKAAVGPTGGGGGGDFDYPGAPAGPGGAVM
PGGAHGPPPGYGCAAAGYLDGRLEPLYERVGAPALRPLVIKQEPREEDEAKQLALAGLFP
YQPPPPPPPSHPHPHPPPAHLAAPHLQFQIAHCGQTTMHLQPGHPTPPPTPVPSPHPAPA
LGAAGLPGPGSALKGLGAAHPDLRASGGSGAGKAKKSVDKNSNEYRVRRERNNIAVRKSR
DKAKQRNVETQQKVLELTSDNDRLRKRVEQLSRELDTLRGIFRQLPESSLVKAMGNCA

Sequence length

358

Interactions

View interactions

1033

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs1600021258, rs2145264820, rs2145258913, rs2513332280, rs2513332000, rs2513331483, rs2513328486, rs2513332961, rs2513328286, rs2513332790, rs2513328406, rs2513332781, rs2513328365, rs2145264731, rs2145264339 View all (26 more)	RCV001315717 RCV001379181 RCV001785425 RCV002282592 RCV002282593 RCV002282594 RCV002282595 RCV002282596 RCV002282597 RCV002282598 RCV002282599 RCV002282600 RCV002282601 RCV002037764 RCV002035440 RCV002272627 RCV002272730 RCV002277720 RCV002277731 RCV002277736 RCV002277737 RCV002277738 RCV002277739 RCV002834594 RCV003635266 RCV000019126 RCV000019127 RCV000019129 RCV000019130 RCV000019131 RCV000019132 RCV000020587 RCV000464349 RCV000502416 RCV000503374 RCV000809619 RCV000798804 RCV001064133 RCV001054756 RCV001207644 RCV001240401 RCV002282506 RCV001880198
Hereditary cancer-predisposing syndrome	Likely pathogenic	rs2145262824, rs2145262808, rs2145262693	RCV002257354 RCV002255990 RCV002258643

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autosomal dominant familial acute myeloid leukemia	Conflicting classifications of pathogenicity	rs530569305	RCV000509407
CEBPA-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign	rs981299051, rs1967184069, rs1967186909, rs2145262901, rs1440808608, rs375833261, rs535980233, rs878854703, rs746430067, rs752254340, rs900736074, rs2513333812, rs557100333, rs925688689, rs2513331799 View all (18 more)	RCV004756243 RCV003908794 RCV003951055 RCV003896092 RCV003963446 RCV004755820 RCV003955345 RCV003955344 RCV004755821 RCV003937905 RCV003392935 RCV003402909 RCV003897252 RCV003904369 RCV003982438 RCV003977034 RCV003899556 RCV003969870 RCV003941635 RCV003983569 RCV003962229 RCV003418180 RCV003942547 RCV003972785 RCV004755922 RCV004755923 RCV003905332 RCV003915488 RCV003905691 RCV003403447 RCV003918006 RCV003983173 RCV003965572 RCV003983205 RCV004756043 RCV004756052 RCV003943039 RCV003970654

Show/Hide Text Mining Associations (149)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abdominal Injuries	Associate	38477908
Acute erythroleukemia	Associate	19304957, 25987038, 35032366
Adenocarcinoma of Lung	Associate	11912209, 30984536
Adenocarcinoma of Lung	Inhibit	28746919
Alzheimer Disease	Associate	37735671
Anemia Hemolytic	Associate	30942098
Anodontia	Inhibit	19414368
Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis	Associate	22403660
Aortic Aneurysm Abdominal	Associate	28912007
Asthma	Associate	37301411
Atherosclerosis	Associate	33167400, 36303246, 36835545
Bipolar Disorder	Associate	36463340
Breast Neoplasms	Associate	19054766, 19414368, 20431345, 24789216, 26450928
Breast Neoplasms	Inhibit	26823765
Burkitt Lymphoma	Inhibit	22260161
Carcinogenesis	Associate	20386538, 24067965, 29281558, 30644437
Carcinogenesis	Inhibit	28640877
Carcinoma Hepatocellular	Associate	16980607, 20146079, 2167445, 22930530, 28882451, 29566023, 31561740, 31621133, 32357963
Carcinoma Non Small Cell Lung	Associate	17239984
Carcinoma Pancreatic Ductal	Associate	24171174, 36675048
Carcinoma Squamous Cell	Associate	17239984, 25402211
Carcinoma Squamous Cell	Inhibit	24913332
Cardiovascular Diseases	Associate	20460359, 33126883
Cerebral Hemorrhage	Associate	33150481
Cholangiocarcinoma	Associate	35550144
Chromosome Aberrations	Associate	29360622
Colonic Neoplasms	Associate	36181111
Colorectal Neoplasms	Associate	28675510, 30985693, 32517740
Colorectal Neoplasms	Stimulate	35627268
Coronary Artery Disease	Associate	38097358
COVID 19	Associate	37344097
Crohn Disease	Associate	22457781
Death	Associate	21372155, 33779075
Depressive Disorder Major	Associate	36734726
Diabetes Mellitus	Associate	38290456
Diabetes Mellitus Type 2	Associate	20460359
Diabetic Nephropathies	Associate	36978091
Disease Progression	Associate	35698045
Endometrial Neoplasms	Associate	15886297, 39390018
Endometriosis	Associate	29357938
Fatty Liver	Associate	33096687
Fibrosis	Inhibit	26722507
GATA2 Deficiency	Associate	26693794
Genital Neoplasms Female	Associate	26559525
Glioblastoma	Associate	27346347
Glycogen Storage Disease Type IV	Associate	32877461
Glycosuria Renal	Associate	36978091
Graves Ophthalmopathy	Inhibit	31415657
Guillain Barre Syndrome	Associate	34763483
Heart Diseases	Associate	20492756
Hematologic Neoplasms	Associate	29365323, 33170359
Hepatitis B	Associate	21957142
Hepatoblastoma	Associate	34245919
HIV Infections	Associate	25629043
Hyperglycemia	Associate	31398873
Hypertension	Associate	28784648
Hypoxia	Inhibit	19414368
Idiopathic Pulmonary Fibrosis	Inhibit	31829168
Infections	Associate	21670465
Inflammation	Associate	14514692, 21957142
Inflammation	Inhibit	36124714
Insulin Resistance	Associate	17986714, 19763090, 31547433, 33341231
Intestinal Pseudo Obstruction	Associate	38477908
Isodicentric Chromosome 15 Syndrome	Associate	15855281, 21389317
Kidney Failure Chronic	Associate	30212930
Leukemia	Associate	12406909, 15326310, 16446383, 17475913, 18450602, 19131553, 19168792, 19825991, 20060365, 20376080, 21403128, 21670465, 21880716, 22990006, 23541085 View all (13 more)
Leukemia	Inhibit	19662097, 19666867, 29431622
Leukemia Biphenotypic Acute	Associate	34934076, 36219502, 37981088
Leukemia Erythroblastic Acute	Associate	33929501
Leukemia Lymphoma Adult T Cell	Associate	19131553, 24359396
Leukemia Myelogenous Chronic BCR ABL Positive	Inhibit	14517214
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	16418324, 18550858, 20421268, 23541085
Leukemia Myeloid	Inhibit	16873674, 17170124, 31278031
Leukemia Myeloid	Associate	17475913, 18687517, 23932747, 26109609
Leukemia Myeloid Acute	Associate	11978795, 12351377, 12406909, 12869508, 14517214, 15575056, 15855281, 16418324, 16446383, 17170124, 17234736, 17475913, 17671234, 17671235, 18337557 View all (126 more)
Leukemia Myeloid Acute	Inhibit	35003895
Leukemia Myeloid Chronic Atypical BCR ABL Negative	Associate	36375042
Leukemia Neutrophilic Chronic	Associate	36375042
Leukemia Promyelocytic Acute	Inhibit	21134977, 26397153
Leukemia Promyelocytic Acute	Associate	24038216, 24584857, 31959056, 33901013, 36809862, 9326225
Leukemia T Cell	Associate	27005833
Lipodystrophy	Associate	30940487
Liposarcoma	Inhibit	22170698, 34667024
Liposarcoma	Associate	22328974, 25650275, 26193637
Liver Cirrhosis	Inhibit	26722507
Liver Failure	Associate	26722507
Lung Injury	Associate	33413422
Lung Neoplasms	Associate	17239984, 17925434, 38242344
Lymphatic Metastasis	Stimulate	29281558
Lymphoma Large B Cell Diffuse	Associate	22260161
Lymphoma Mantle Cell	Stimulate	22260161
Lymphoma Primary Effusion	Associate	12915572
Metabolic Diseases	Associate	20460359
Mitochondrial Diseases	Associate	32623605
Multiple Myeloma	Associate	17785586
Myelodysplastic Myeloproliferative Diseases	Associate	20421268
Myelodysplastic Syndromes	Associate	19644139, 20492756, 26004809, 31329928, 31964915, 36380727, 36799265, 40593493
Myotonic Dystrophy	Associate	26847745
Neoplasm Metastasis	Associate	38242344
Neoplasms	Associate	10098766, 20038293, 20338228, 20628397, 20671427, 21668942, 21670465, 22766217, 23012328, 25023465, 25468431, 26162409, 26559525, 26843622, 27602952 View all (12 more)
Neoplasms	Inhibit	15886297, 16873674, 17239984, 19035457, 19236911, 19742317, 19901962, 20376080, 20386538, 22241790, 22260161, 23932747, 24004452, 34667024, 37704613
Neoplasms Squamous Cell	Associate	34790046
Neural Tube Defects	Associate	19644139
Neuroblastoma	Associate	7713908
Neuroendocrine Tumors	Associate	25023465
Neuroinflammatory Diseases	Associate	37344097
Neutropenia Severe Congenital Autosomal Recessive 3	Inhibit	19620402
Non alcoholic Fatty Liver Disease	Associate	27836672, 36835545
Obesity	Associate	19763090, 20460359, 31547433
Obesity Abdominal	Associate	20460359
Oncogene Addiction	Associate	17170124
Ovarian Neoplasms	Associate	27602952
Pancreatic Neoplasms	Associate	19035457
Papilloma	Associate	9853426
Parkinson Disease	Stimulate	34721431
Pdgfrb Associated Chronic Eosinophilic Leukemia	Associate	32011516
Peripheral Arterial Disease	Associate	20492756
Peripheral Nervous System Diseases	Associate	36741233
Polycystic Ovary Syndrome	Associate	33228780, 33341231
Pre Eclampsia	Associate	23544093
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	17170124, 36341510
Precursor Cell Lymphoblastic Leukemia Lymphoma	Stimulate	16873674
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	17170124
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	12472578, 14616999, 15667533, 16643447, 18752591, 20492756, 20628397, 22568493, 23521373, 23560626, 24755948, 26847745, 27005833, 27022003, 27470916 View all (10 more)
Primary Immunodeficiency Diseases	Associate	21670465
Primary Myelofibrosis	Associate	26843622
Prodromal Symptoms	Associate	32877461
Prostatic Neoplasms	Associate	21549806, 33471067
Protein Deficiency	Associate	26762974
Pulmonary Disease Chronic Obstructive	Associate	29506519
Recurrent respiratory papillomatosis	Associate	9853426
Retinal Dysplasia	Associate	22442349
Rupture	Associate	36303246
Shwachman Diamond Syndrome	Associate	26762974
Skin Neoplasms	Associate	25402211
Squamous Cell Carcinoma of Head and Neck	Associate	19089912, 24667986, 25816241, 29281558
Status Asthmaticus	Associate	15295049, 16670028
Stomach Neoplasms	Associate	16414987, 28423525, 30644437, 35421923
Stomach Neoplasms	Inhibit	20386538
Tendinopathy	Associate	29385715
Tertiary Lymphoid Structures	Associate	36675048
Thrombosis	Associate	26843622
Thymoma	Associate	33277874
Tuberculosis Pulmonary	Associate	9763605
Uniparental Disomy	Associate	18490517
Urinary Bladder Neoplasms	Associate	24648007
Uterine Cervical Neoplasms	Inhibit	24913332
Uterine Cervicitis	Associate	18495195, 24913332
Weight Loss	Stimulate	15340105

CEBPA (CCAAT enhancer binding protein alpha)