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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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 View all (38 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic	rs2145262824, rs2145262808, rs2145262693	RCV002257354 RCV002255990 RCV002258643	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (28)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant familial acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEBPA-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EMPHYSEMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEAD AND NECK NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOARDING DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, FEMALE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, ACUTE MYELOID	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, PROMYELOCYTIC, ACUTE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MASTOCYTOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRE-ECLAMPSIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (243)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	27389056, 30926096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	31666608		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	15855281, 18450602, 19277035, 19304957, 20018373, 20628397, 20888888, 20889924, 21177436, 21389317, 21471526, 21674360, 22442349, 22766221, 22990006 View all (18 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	GENOMICS_ENGLAND_DG	28297620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	18987666, 19822134, 30420649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia with CEBPA somatic mutations	Myeloid Leukemia With CEBPA Somatic Mutations	ORPHANET_DG	19357394, 22649106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia with CEBPA somatic mutations	Myeloid Leukemia With CEBPA Somatic Mutations	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia with t(8;21)(q22;q22) translocation	Myeloid Leukemia With T(8;21)(Q22;Q22) Translocation	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	BEFREE	12351377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	18987666, 19822134, 30420649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	25241285, 30190467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	12351377, 19797526, 20864248, 21134977, 26397153, 29310020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	CTD_human_DG	16788101, 26285909		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	27488898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	31666608		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	19304957, 22990006, 25014773, 27436336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	GENOMICS_ENGLAND_DG	19953636		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alveolitis, Fibrosing	Alveolitis	CTD_human_DG	29078374		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37735671	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis	Amyloidosis	BEFREE	23911420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	30942098	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	19414368	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	24171174, 24947179, 26983359, 31546149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	28912007	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Apparent mineralocorticoid excess	Apparent Mineralocorticoid Excess	BEFREE	15326310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	28665611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28858301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	37301411	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	28858301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	33167400, 36303246, 36835545	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	26295369		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	36463340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	24648007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	16643447		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet-type bleeding disorder	BEFREE	18173751		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18381421, 26450928, 26823765, 31015230, 31373033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19054766, 19414368, 20431345, 24789216, 26450928	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26823765	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	22260161	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cancer of Head	Neoplasm of head	CTD_human_DG	17510391		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cancer of Neck	Neck Cancer	CTD_human_DG	17510391		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	20386538, 24067965, 29281558, 30644437	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28640877	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	26559525, 26823765		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	16980607, 20146079, 2167445, 22930530, 28882451, 29566023, 31561740, 31621133, 32357963	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	24648007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15205324, 16537832, 17925434, 27488898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	24171174, 36675048	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	17239984, 25402211	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24913332	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	27602952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	20460359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	20460359, 33126883	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	33150481	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	24913332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	24913332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	23021489, 31666608		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	19304957, 20495894, 25014773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	GENOMICS_ENGLAND_DG	19953636		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	35550144	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28144729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	20671051, 26843622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	29511346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28341486, 30675263		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	36181111	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30210916		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28675510, 30985693, 32517740	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35627268	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	19289855, 24056881, 26802049, 29360622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	20492756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	38097358	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	22457781	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	36734726	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	21177436		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	38290456	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	20460359	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	20460359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	36978091	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	22260161		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	15886297, 39390018	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	23833041, 29357938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	29357938	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	23318274, 23499441, 30089269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	33096687	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	26693794	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	27346347	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30621209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30621209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29464001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	32877461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	36978091	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	31415657	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head And Neck Neoplasms	CTD_human_DG	17510391		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Head Neoplasms	Head Neoplasms	CTD_human_DG	17510391		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	20492756	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	15674366, 18182175, 19731081		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	LHGDN	18182175		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	29365323, 33170359	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	21957142	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	LHGDN	17203171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	17372916		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	34245919	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	31398873, 31607843		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	31398873	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	20492756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	28784648	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	16942595		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	19414368	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	31829168	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inherited acute myeloid leukemia	Myeloid Leukemia	ORPHANET_DG	22649106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inherited acute myeloid leukemia	Myeloid Leukemia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	17986714, 19763090, 31547433, 33341231	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	12145325, 12477864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	30212930	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	12406909, 15326310, 16446383, 17475913, 18450602, 19131553, 19168792, 19825991, 20060365, 20376080, 21403128, 21670465, 21880716, 22990006, 23541085 View all (13 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	15746035, 18729193, 19168792, 20060365, 20422469, 21403128, 21601364, 22766221, 22990006, 23160200, 23349306, 23590662, 24183681, 24229703, 26162409 View all (7 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	17671232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19662097, 19666867, 29431622	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	16873674, 17170124, 31278031	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	17475913, 18687517, 23932747, 26109609	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	11978795, 12351377, 12406909, 12869508, 14517214, 15575056, 15855281, 16418324, 16446383, 17170124, 17234736, 17475913, 17671234, 17671235, 18337557 View all (126 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35003895	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Neutrophilic Chronic	Neutrophilic leukemia	Pubtator	36375042	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	21134977, 26397153	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	24038216, 24584857, 31959056, 33901013, 36809862, 9326225	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CLINGEN_DG	10397723, 1391942, 15575056, 15902292, 18394553, 18768433, 18946494, 19953636, 21177436, 21455213, 23716546, 26162409, 26721895, 30563700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11242107, 11283671, 11809705, 11830484, 12351377, 12472578, 12592334, 12661007, 14616999, 14656889, 14726504, 15326310, 15575056, 15645492, 15674366 View all (165 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	UNIPROT_DG	11242107, 12661007, 15575056		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	12351377, 12393450, 12592334, 12661007, 14726504, 17190859, 17554374, 17851556, 18451139, 18587575, 18768433, 18809607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	18987666, 19822134, 30420649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GENOMICS_ENGLAND_DG	19953636, 27069254, 28297620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	Myeloid Leukemia	BEFREE	20421268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	18308386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	LHGDN	18308386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	BEFREE	31203998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	Pubtator	30940487	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	22170698, 34667024	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	22328974, 25650275, 26193637	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	22170698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma, well differentiated	liposarcoma	BEFREE	22170698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12680236, 17363595, 18663475, 20347819, 23816696, 24333181, 26704017, 28882451, 29566023, 29886828, 29949741, 30643190, 31092334, 31512996, 31561740		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	16288022, 21785164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	26722507	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	29511346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	26722507	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	23769673, 29566023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	11809705, 16537832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	17239984, 17925434, 38242344	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	21399661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	29281558	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	17671232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	12970736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	22260161		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	18182175, 19651529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	18182175		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	CTD_human_DG	17510391		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18381421, 26450928, 26823765, 31015230, 31373033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29511346, 29804529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15205324, 16537832, 17925434, 27488898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	27602952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21549806, 30430607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	CTD_human_DG	21346772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	22249251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	24648007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16537832, 18481268, 18809607, 20026798, 20927134, 25398938, 25824695, 27210295, 28031014, 29312632, 30430607, 31203998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	24913332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30675263		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12825852, 15867211		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	28675510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	20460359	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	22269963, 29805017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	32623605	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	17785586	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	18182175, 19259613, 19651529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	31203998		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	11830484, 17616640, 18182175, 19651529, 20492756, 22851180, 26004809, 26025484, 27210295, 31203998, 31329928, 31676828		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	12592334, 18182175		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	19644139, 20492756, 26004809, 31329928, 31964915, 36380727, 36799265, 40593493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic-Myeloproliferative Diseases	Myelodysplastic-Myeloproliferative Diseases	BEFREE	20421268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	22902925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	16643447, 23541085, 27161125, 27297623, 28560057, 28901467, 31062357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	20671051, 23086932, 24142791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	20492756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	26847745	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	21177436		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	CTD_human_DG	17510391		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11242107, 16537832, 16873674, 17510391, 18381421, 18663475, 18841055, 22260161, 22328974, 23023397, 23673926, 23884858, 24947179, 25468431, 25824695 View all (12 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	18559874, 30082223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	19644139	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	16942595, 22577844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	7713908	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia Severe Congenital Autosomal Recessive 3	Severe congenital neutropenia	Pubtator	19620402	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	23318274, 23499441, 30089269, 31569521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30607139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	19763090, 20460359, 31547433	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	20460359		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	CTD_human_DG	28242765		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity Abdominal	Obesity	Pubtator	20460359	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28652211, 9405456		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	27602952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	27602952	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	19035457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19035457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	Pubtator	9853426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34721431	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	20492756	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	20492756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	BEFREE	20492756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	36741233	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	33228780, 33341231	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pre B-cell acute lymphoblastic leukemia	B-cell Lymphoma	BEFREE	16873674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	16873674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	16873674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	31666608		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21549806, 30430607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21549806, 33471067	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29506519	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	29078374		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Radiation-Induced Cancer	Radiation-Induced Cancer	CTD_human_DG	21346772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Resistance to Insulin-Like Growth Factor I	IGF-I RESISTANCE	BEFREE	31340202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Shwachman syndrome	Shwachman Syndrome	BEFREE	26762974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	CTD_human_DG	21346772		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin neoplasm	Pubtator	25402211	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Specific granule deficiency	Specific Granule Deficiency	BEFREE	17483073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	17510391, 21346772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	19089912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19089912, 24667986, 25816241, 29281558	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	17510391, 21563216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	23499441, 30089269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	16414987, 28423525, 30644437, 35421923	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	20386538	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29291402		★★★★★ ★☆☆☆☆ Found in Text Mining only
Subfertility, Female	Subfertility	CTD_human_DG	21177758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	26843622	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Upper Aerodigestive Tract Neoplasms	Upper Aerodigestive Tract Neoplasms	CTD_human_DG	17510391		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	24648007	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	26053097		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24913332	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	22272226		★★★★★ ★☆☆☆☆ Found in Text Mining only

CEBPA (CCAAT enhancer binding protein alpha)