Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	2648
Gene name	Lysine acetyltransferase 2A
Gene symbol	KAT2A
Synonyms (NCBI Gene)	GCN5GCN5L2PCAF-bhGCN5
Chromosome	17
Chromosome location	17q21.2
Summary	KAT2A, or GCN5, is a histone acetyltransferase (HAT) that functions primarily as a transcriptional activator. It also functions as a repressor of NF-kappa-B (see MIM 164011) by promoting ubiquitination of the NF-kappa-B subunit RELA (MIM 164014) in a HAT-

159 Show/Hide all (159)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022532	hsa-miR-124-3p	Microarray	18668037
MIRT023698	hsa-miR-1-3p	Microarray	18668037
MIRT049612	hsa-miR-92a-3p	qRT-PCR	23622248
MIRT050843	hsa-miR-17-5p	CLASH	23622248
MIRT049612	hsa-miR-92a-3p	CLASH	23622248
MIRT047064	hsa-miR-183-5p	CLASH	23622248
MIRT043446	hsa-miR-331-3p	CLASH	23622248
MIRT039857	hsa-miR-615-3p	CLASH	23622248
MIRT437521	hsa-miR-19b-3p	Immunoprecipitaion	22382630
MIRT1078613	hsa-miR-155	CLIP-seq
MIRT1078614	hsa-miR-365	CLIP-seq
MIRT1078615	hsa-miR-4475	CLIP-seq
MIRT1078616	hsa-miR-4755-3p	CLIP-seq
MIRT1078617	hsa-miR-4790-3p	CLIP-seq
MIRT1078616	hsa-miR-4755-3p	CLIP-seq
MIRT2251467	hsa-miR-1275	CLIP-seq
MIRT2251468	hsa-miR-1287	CLIP-seq
MIRT2251469	hsa-miR-3135b	CLIP-seq
MIRT2251470	hsa-miR-3175	CLIP-seq
MIRT2251471	hsa-miR-3622b-5p	CLIP-seq
MIRT2251472	hsa-miR-3660	CLIP-seq
MIRT2251473	hsa-miR-3910	CLIP-seq
MIRT2251474	hsa-miR-4292	CLIP-seq
MIRT2251475	hsa-miR-4525	CLIP-seq
MIRT2251476	hsa-miR-4526	CLIP-seq
MIRT2251477	hsa-miR-4638-3p	CLIP-seq
MIRT2251478	hsa-miR-4640-3p	CLIP-seq
MIRT2251479	hsa-miR-4665-5p	CLIP-seq
MIRT2251480	hsa-miR-4723-5p	CLIP-seq
MIRT2251481	hsa-miR-4773	CLIP-seq
MIRT2251482	hsa-miR-512-3p	CLIP-seq
MIRT2251483	hsa-miR-625	CLIP-seq
MIRT2251484	hsa-miR-637	CLIP-seq
MIRT2554675	hsa-miR-1203	CLIP-seq
MIRT2554676	hsa-miR-1205	CLIP-seq
MIRT2554677	hsa-miR-122	CLIP-seq
MIRT2554678	hsa-miR-1226	CLIP-seq
MIRT2251467	hsa-miR-1275	CLIP-seq
MIRT2554679	hsa-miR-1276	CLIP-seq
MIRT2554680	hsa-miR-128	CLIP-seq
MIRT2554681	hsa-miR-1285	CLIP-seq
MIRT2554682	hsa-miR-1286	CLIP-seq
MIRT2251468	hsa-miR-1287	CLIP-seq
MIRT2554683	hsa-miR-1302	CLIP-seq
MIRT2554684	hsa-miR-1587	CLIP-seq
MIRT2554685	hsa-miR-198	CLIP-seq
MIRT2554686	hsa-miR-2110	CLIP-seq
MIRT2554687	hsa-miR-3127-3p	CLIP-seq
MIRT2251469	hsa-miR-3135b	CLIP-seq
MIRT2554688	hsa-miR-3144-5p	CLIP-seq
MIRT2554689	hsa-miR-3150a-3p	CLIP-seq
MIRT2554690	hsa-miR-3184	CLIP-seq
MIRT2554691	hsa-miR-3187-5p	CLIP-seq
MIRT2554692	hsa-miR-3191	CLIP-seq
MIRT2554693	hsa-miR-342-5p	CLIP-seq
MIRT2251471	hsa-miR-3622b-5p	CLIP-seq
MIRT2554694	hsa-miR-3652	CLIP-seq
MIRT2554695	hsa-miR-3662	CLIP-seq
MIRT2554696	hsa-miR-3663-5p	CLIP-seq
MIRT2554697	hsa-miR-377	CLIP-seq
MIRT2251473	hsa-miR-3910	CLIP-seq
MIRT2554698	hsa-miR-423-5p	CLIP-seq
MIRT2554699	hsa-miR-4277	CLIP-seq
MIRT2251474	hsa-miR-4292	CLIP-seq
MIRT2554700	hsa-miR-4298	CLIP-seq
MIRT2554701	hsa-miR-4308	CLIP-seq
MIRT2554702	hsa-miR-4313	CLIP-seq
MIRT2554703	hsa-miR-4328	CLIP-seq
MIRT2554704	hsa-miR-4430	CLIP-seq
MIRT2554705	hsa-miR-4468	CLIP-seq
MIRT2554706	hsa-miR-4488	CLIP-seq
MIRT2554707	hsa-miR-4492	CLIP-seq
MIRT2554708	hsa-miR-4493	CLIP-seq
MIRT2554709	hsa-miR-4498	CLIP-seq
MIRT2554710	hsa-miR-4505	CLIP-seq
MIRT2554711	hsa-miR-4539	CLIP-seq
MIRT2251477	hsa-miR-4638-3p	CLIP-seq
MIRT2554712	hsa-miR-4640-5p	CLIP-seq
MIRT2554713	hsa-miR-4650-5p	CLIP-seq
MIRT2554714	hsa-miR-4652-5p	CLIP-seq
MIRT2554715	hsa-miR-4656	CLIP-seq
MIRT2554716	hsa-miR-4664-5p	CLIP-seq
MIRT2251479	hsa-miR-4665-5p	CLIP-seq
MIRT2554717	hsa-miR-4674	CLIP-seq
MIRT2554718	hsa-miR-4675	CLIP-seq
MIRT2554719	hsa-miR-4697-5p	CLIP-seq
MIRT2554720	hsa-miR-4701-5p	CLIP-seq
MIRT2554721	hsa-miR-4722-5p	CLIP-seq
MIRT2554722	hsa-miR-4726-5p	CLIP-seq
MIRT2554723	hsa-miR-4741	CLIP-seq
MIRT2554724	hsa-miR-4751	CLIP-seq
MIRT1078616	hsa-miR-4755-3p	CLIP-seq
MIRT2251481	hsa-miR-4773	CLIP-seq
MIRT2554725	hsa-miR-4786-3p	CLIP-seq
MIRT2554726	hsa-miR-493	CLIP-seq
MIRT2251482	hsa-miR-512-3p	CLIP-seq
MIRT2554727	hsa-miR-513c	CLIP-seq
MIRT2554728	hsa-miR-514b-5p	CLIP-seq
MIRT2554729	hsa-miR-518d-5p	CLIP-seq
MIRT2554730	hsa-miR-519b-5p	CLIP-seq
MIRT2554731	hsa-miR-519c-5p	CLIP-seq
MIRT2554732	hsa-miR-520c-5p	CLIP-seq
MIRT2554733	hsa-miR-526a	CLIP-seq
MIRT2554734	hsa-miR-550a	CLIP-seq
MIRT2554735	hsa-miR-558	CLIP-seq
MIRT2554736	hsa-miR-588	CLIP-seq
MIRT2554737	hsa-miR-612	CLIP-seq
MIRT2554738	hsa-miR-635	CLIP-seq
MIRT2251484	hsa-miR-637	CLIP-seq
MIRT2554739	hsa-miR-647	CLIP-seq
MIRT2554740	hsa-miR-661	CLIP-seq
MIRT2554741	hsa-miR-762	CLIP-seq
MIRT2554676	hsa-miR-1205	CLIP-seq
MIRT2251467	hsa-miR-1275	CLIP-seq
MIRT2554679	hsa-miR-1276	CLIP-seq
MIRT2554680	hsa-miR-128	CLIP-seq
MIRT2554682	hsa-miR-1286	CLIP-seq
MIRT2251468	hsa-miR-1287	CLIP-seq
MIRT2554683	hsa-miR-1302	CLIP-seq
MIRT2554684	hsa-miR-1587	CLIP-seq
MIRT2554685	hsa-miR-198	CLIP-seq
MIRT2554686	hsa-miR-2110	CLIP-seq
MIRT2554687	hsa-miR-3127-3p	CLIP-seq
MIRT2251469	hsa-miR-3135b	CLIP-seq
MIRT2554688	hsa-miR-3144-5p	CLIP-seq
MIRT2554689	hsa-miR-3150a-3p	CLIP-seq
MIRT2554692	hsa-miR-3191	CLIP-seq
MIRT2554693	hsa-miR-342-5p	CLIP-seq
MIRT2251471	hsa-miR-3622b-5p	CLIP-seq
MIRT2554697	hsa-miR-377	CLIP-seq
MIRT2251473	hsa-miR-3910	CLIP-seq
MIRT2554700	hsa-miR-4298	CLIP-seq
MIRT2554702	hsa-miR-4313	CLIP-seq
MIRT2554703	hsa-miR-4328	CLIP-seq
MIRT2554707	hsa-miR-4492	CLIP-seq
MIRT2554708	hsa-miR-4493	CLIP-seq
MIRT2554709	hsa-miR-4498	CLIP-seq
MIRT2554710	hsa-miR-4505	CLIP-seq
MIRT2554711	hsa-miR-4539	CLIP-seq
MIRT2251477	hsa-miR-4638-3p	CLIP-seq
MIRT2554712	hsa-miR-4640-5p	CLIP-seq
MIRT2554713	hsa-miR-4650-5p	CLIP-seq
MIRT2554714	hsa-miR-4652-5p	CLIP-seq
MIRT2554715	hsa-miR-4656	CLIP-seq
MIRT2554716	hsa-miR-4664-5p	CLIP-seq
MIRT2251479	hsa-miR-4665-5p	CLIP-seq
MIRT2554717	hsa-miR-4674	CLIP-seq
MIRT2554718	hsa-miR-4675	CLIP-seq
MIRT2554721	hsa-miR-4722-5p	CLIP-seq
MIRT2554722	hsa-miR-4726-5p	CLIP-seq
MIRT2554723	hsa-miR-4741	CLIP-seq
MIRT1078616	hsa-miR-4755-3p	CLIP-seq
MIRT2251481	hsa-miR-4773	CLIP-seq
MIRT2554726	hsa-miR-493	CLIP-seq
MIRT2251482	hsa-miR-512-3p	CLIP-seq
MIRT2554734	hsa-miR-550a	CLIP-seq
MIRT2554735	hsa-miR-558	CLIP-seq
MIRT2554738	hsa-miR-635	CLIP-seq
MIRT2554741	hsa-miR-762	CLIP-seq

117 Show/Hide all (117)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	18838386
GO:0000123	Component	Histone acetyltransferase complex	IDA	29973595, 31527837
GO:0000123	Component	Histone acetyltransferase complex	IEA
GO:0000124	Component	SAGA complex	IDA	11564863
GO:0000124	Component	SAGA complex	IEA
GO:0000124	Component	SAGA complex	NAS	19114550
GO:0000785	Component	Chromatin	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001756	Process	Somitogenesis	IEA
GO:0001819	Process	Positive regulation of cytokine production	IEA
GO:0001819	Process	Positive regulation of cytokine production	ISS
GO:0001843	Process	Neural tube closure	IEA
GO:0003682	Function	Chromatin binding	IDA	29211711
GO:0003682	Function	Chromatin binding	IEA
GO:0003713	Function	Transcription coactivator activity	IDA	11564863, 29211711, 29973595, 31527837
GO:0004402	Function	Histone acetyltransferase activity	IDA	10373431, 11564863, 29211711, 31527837
GO:0004402	Function	Histone acetyltransferase activity	IEA
GO:0004402	Function	Histone acetyltransferase activity	TAS
GO:0005515	Function	Protein binding	IPI	17664281, 20508642, 20562830, 20972224, 21725360, 24502362, 27796307, 29174768, 29232376, 29973595, 31527837, 33894414, 33961781, 35140242
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005634	Component	Nucleus	IDA	11564863, 25593309, 27796307, 29211711
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	27796307
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006094	Process	Gluconeogenesis	IDA	16753578
GO:0006094	Process	Gluconeogenesis	IEA
GO:0006282	Process	Regulation of DNA repair	NAS	11406595, 11564863
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006338	Process	Chromatin remodeling	TAS	8552087
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IMP	19936620
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	9603525, 22055187
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	8552087
GO:0007399	Process	Nervous system development	IEA
GO:0007507	Process	Heart development	ISS
GO:0007616	Process	Long-term memory	IEA
GO:0007616	Process	Long-term memory	ISS
GO:0008080	Function	N-acetyltransferase activity	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010484	Function	Histone H3 acetyltransferase activity	IBA
GO:0010484	Function	Histone H3 acetyltransferase activity	IDA	18838386
GO:0010484	Function	Histone H3 acetyltransferase activity	IEA
GO:0016407	Function	Acetyltransferase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0016747	Function	Acyltransferase activity, transferring groups other than amino-acyl groups	IEA
GO:0018393	Process	Internal peptidyl-lysine acetylation	IDA	27796307, 29174768
GO:0019903	Function	Protein phosphatase binding	IEA
GO:0021537	Process	Telencephalon development	IEA
GO:0022037	Process	Metencephalon development	IEA
GO:0030901	Process	Midbrain development	IEA
GO:0031346	Process	Positive regulation of cell projection organization	IEA
GO:0031647	Process	Regulation of protein stability	IMP	20562830
GO:0031667	Process	Response to nutrient levels	IEA
GO:0033276	Component	Transcription factor TFTC complex	IDA	10373431
GO:0033276	Component	Transcription factor TFTC complex	NAS	10373431
GO:0035264	Process	Multicellular organism growth	IEA
GO:0036211	Process	Protein modification process	IEA
GO:0042826	Function	Histone deacetylase binding	IEA
GO:0042826	Function	Histone deacetylase binding	IPI	12887892
GO:0043484	Process	Regulation of RNA splicing	NAS	11564863
GO:0043992	Function	Histone H3K9 acetyltransferase activity	IDA	21131905, 35995428
GO:0043992	Function	Histone H3K9 acetyltransferase activity	IEA
GO:0043993	Function	Histone H3K18 acetyltransferase activity	IEA
GO:0043997	Function	Histone H4K12 acetyltransferase activity	IEA
GO:0045252	Component	Oxoglutarate dehydrogenase complex	IDA	29211711
GO:0045589	Process	Regulation of regulatory T cell differentiation	IEA
GO:0045589	Process	Regulation of regulatory T cell differentiation	ISS
GO:0045721	Process	Negative regulation of gluconeogenesis	IDA	16753578, 23142079
GO:0045722	Process	Positive regulation of gluconeogenesis	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	29973595, 31527837
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	18206972
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	29211711
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045995	Process	Regulation of embryonic development	IEA
GO:0045995	Process	Regulation of embryonic development	ISO
GO:0046600	Process	Negative regulation of centriole replication	IDA	27796307
GO:0046600	Process	Negative regulation of centriole replication	IEA
GO:0048144	Process	Fibroblast proliferation	IEA
GO:0048167	Process	Regulation of synaptic plasticity	IEA
GO:0048167	Process	Regulation of synaptic plasticity	ISS
GO:0048312	Process	Intracellular distribution of mitochondria	IEA
GO:0050863	Process	Regulation of T cell activation	IEA
GO:0050863	Process	Regulation of T cell activation	ISS
GO:0051302	Process	Regulation of cell division	IDA	20562830
GO:0051302	Process	Regulation of cell division	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0051726	Process	Regulation of cell cycle	IMP	19103755
GO:0060173	Process	Limb development	ISS
GO:0061035	Process	Regulation of cartilage development	IEA
GO:0061035	Process	Regulation of cartilage development	ISS
GO:0061733	Function	Protein-lysine-acetyltransferase activity	IDA	16753578, 23142079, 27796307, 29174768, 38128537
GO:0061733	Function	Protein-lysine-acetyltransferase activity	IEA
GO:0062012	Process	Regulation of small molecule metabolic process	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0072686	Component	Mitotic spindle	IEA
GO:0072686	Component	Mitotic spindle	NAS	20562830
GO:0106078	Function	Histone succinyltransferase activity	IDA	29211711
GO:0106227	Process	Peptidyl-lysine glutarylation	IDA	31542297
GO:0106228	Function	Peptide glutaryltransferase activity	IEA
GO:0106229	Function	Histone glutaryltransferase activity	IDA	31542297
GO:0140297	Function	DNA-binding transcription factor binding	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	17301242
GO:0140672	Component	ATAC complex	IBA
GO:0140672	Component	ATAC complex	IDA	18838386, 19936620
GO:0140672	Component	ATAC complex	IEA
GO:1903010	Process	Regulation of bone development	IEA
GO:1903010	Process	Regulation of bone development	ISS
GO:1990090	Process	Cellular response to nerve growth factor stimulus	IEA
GO:2000036	Process	Regulation of stem cell population maintenance	IEA
GO:2000036	Process	Regulation of stem cell population maintenance	ISS
GO:2000727	Process	Positive regulation of cardiac muscle cell differentiation	IEA

MIM	HGNC	e!Ensembl
602301	4201	ENSG00000108773

Q92830

Protein name

Histone acetyltransferase KAT2A (EC 2.3.1.48) (General control of amino acid synthesis protein 5-like 2) (Histone acetyltransferase GCN5) (hGCN5) (Histone glutaryltransferase KAT2A) (EC 2.3.1.-) (Histone succinyltransferase KAT2A) (EC 2.3.1.-) (Lysine ace

Protein function

Protein lysine acyltransferase that can act as a acetyltransferase, glutaryltransferase, succinyltransferase or malonyltransferase, depending on the context (PubMed:29211711, PubMed:35995428). Acts as a histone lysine succinyltransferase: cataly

PDB

1F68 , 1Z4R , 3D7C , 5H84 , 5H86 , 5MLJ , 5TRL , 5TRM , 6J3P , 8E6O , 8H65 , 8H66 , 8H6C , 8H6D

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00439	Bromodomain	737 → 820	Bromodomain	Domain
PF00583	Acetyltransf_1	517 → 627	Acetyltransferase (GNAT) family	Family
PF06466	PCAF_N	86 → 336	PCAF (P300/CBP-associated factor) N-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in all tissues tested. {ECO:0000269|PubMed:8684459}.

Sequence

MAEPSQAPTPAPAAQPRPLQSPAPAPTPTPAPSPASAPIPTPTPAPAPAPAAAPAGSTGT
GGPGVGSGGAGSGGDPARPGLSQQQRASQRKAQVRGLPRAKKLEKLGVFSACKANETCKC
NGWKNPKPPTAPRMDLQQPAANLSELCRSCEHPLADHVSHLENVSEDEINRLLGMVVDVE
NLFMSVHKEEDTDTKQVYFYLFKLLRKCILQMTRPVVEGSLGSPPFEKPNIEQGVLNFVQ
YKFSHLAPRERQTMFELSKMFLLCLNYWKLETPAQFRQRSQAEDVATYKVNYTRWLCYCH
VPQSCDSLPRYETTHVFGRSLLRSIFTVTRRQLLEKFRVEKDKLVPEKRTLILTHFPKFL
SMLEEEIYGANSPIWESGFTMPPSEGTQLVPRPASVSAAVVPSTPIFSPSMGGGSNSSLS
LDSAGAEPMPGEKRTLPENLTLEDAKRLRVMGDIPMELVNEVMLTITDPAAMLGPETSLL
SANAARDETARLEERRGIIEFHVIGNSLTPKANRRVLLWLVGLQNVFSHQLPRMPKEYIA
RLVFDPKHKTLALIKDGRVIGGICFRMFPTQGFTEIVFCAVTSNEQVKGYGTHLMNHLKE
YHIKHNILYFLTYADEYAIGYFKKQGFSKDIKVPKSRYLGYIKDYEGATLMECELNPRIP
YTELSHIIKKQKEIIKKLIERKQAQIRKVYPGLSCFKEGVRQIPVESVPGIRETGWKPLG
KEKGKELKDPDQLYTTLKNLLAQIKSHPSAWPFMEPVKKSEAPDYYEVIRFPIDLKTMTE
RLRSRYYVTRKLFVADLQRVIANCREYNPPDSEYCRCASALEKFFYFKLKEGGLIDK

Sequence length

837

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Viral life cycle - HIV-1	Pre-NOTCH Transcription and Translation
Notch signaling pathway	NOTCH1 Intracellular Domain Regulates Transcription
Thyroid hormone signaling pathway	Constitutive Signaling by NOTCH1 PEST Domain Mutants
Human T-cell leukemia virus 1 infection	Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Viral carcinogenesis	Notch-HLH transcription pathway
	B-WICH complex positively regulates rRNA expression
	Ub-specific processing proteases
	RUNX3 regulates NOTCH signaling
	NOTCH3 Intracellular Domain Regulates Transcription
	NOTCH4 Intracellular Domain Regulates Transcription

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)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (6)
CORONARY ARTERY DISEASE	—	GWAS catalog	29212778, 33020668, 36474045	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	26278503	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	26278503	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	26278503	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (79)
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	23044487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	31576004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	31576004		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31610265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	26767057	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	35712781	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ATRICHIA WITH PAPULAR LESIONS	Atrichia With Papular Lesions	BEFREE	31576004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28424240, 31003455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	17725108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15009097, 20937768, 30128014		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33827682	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	31313989		★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	31645904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32883234, 38007639, 38168564	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21367571, 30021196, 32393195	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	23696899	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31313989		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	17725108		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30079588		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30079588		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	26278503, 28751935	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	26637399	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26637399	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	BEFREE	26278503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	26278503	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exencephaly	Anencephaly	BEFREE	19117321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	26378521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	26378521	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	35712781	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	33809336	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	22086303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	26278503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	26278503	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	27760321, 29297932, 31576004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	27760321, 33223444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	27760321, 33223444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15313893, 27760321, 29844011, 31576004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24248912, 31587155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25770212, 31613681, 36142846	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	34718330	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	22086303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15009097, 20937768, 30128014		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31313989		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30333255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31452712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21725360, 29671337, 30079588, 30333255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30079588		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	37415153	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	23971635		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	19491097	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	21756203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	31313989		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	31320749		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22086303, 28838386, 29211711, 31313989		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	19955365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29773900, 31497362		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	29416009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28642327, 29416009		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31313989		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35639349	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31610265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	BEFREE	28157211		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	27216891	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pre B-cell acute lymphoblastic leukemia	B-cell Lymphoma	BEFREE	23044487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	23044487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30333255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28592290, 30333255	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	28154153		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28154153		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida Cystica	Spina Bifida Cystica	BEFREE	19117321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	BEFREE	15932940, 20621284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	24129567, 33626063	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31452712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24668547, 30274785	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	28125090		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	38007639	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	28678170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	30079588	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Names
KAT2B	[]	14	["Viral life cycle - HIV-1","Notch signaling pathway","Thyroid hormone signaling pathway","Human T-cell leukemia virus 1 infection","Viral carcinogenesis","Constitutive Signaling by NOTCH1 PEST Domain Mutants","Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants","Notch-HLH transcription pathway","Pre-NOTCH Transcription and Translation","NOTCH1 Intracellular Domain Regulates Transcription","RUNX3 regulates NOTCH signaling","NOTCH3 Intracellular Domain Regulates Transcription"]	[]
MAML3	[]	9	["Notch signaling pathway","Constitutive Signaling by NOTCH1 PEST Domain Mutants","Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants","Notch-HLH transcription pathway","Pre-NOTCH Transcription and Translation","NOTCH1 Intracellular Domain Regulates Transcription","RUNX3 regulates NOTCH signaling","NOTCH3 Intracellular Domain Regulates Transcription","NOTCH4 Intracellular Domain Regulates Transcription"]	[]
MAML2	[]	9	["Notch signaling pathway","Constitutive Signaling by NOTCH1 PEST Domain Mutants","Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants","Notch-HLH transcription pathway","Pre-NOTCH Transcription and Translation","NOTCH1 Intracellular Domain Regulates Transcription","RUNX3 regulates NOTCH signaling","NOTCH3 Intracellular Domain Regulates Transcription","NOTCH4 Intracellular Domain Regulates Transcription"]	[]
MAML1	[]	9	["Notch signaling pathway","Constitutive Signaling by NOTCH1 PEST Domain Mutants","Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants","Notch-HLH transcription pathway","Pre-NOTCH Transcription and Translation","NOTCH1 Intracellular Domain Regulates Transcription","RUNX3 regulates NOTCH signaling","NOTCH3 Intracellular Domain Regulates Transcription","NOTCH4 Intracellular Domain Regulates Transcription"]	[]
SNW1	[]	10	["Notch signaling pathway","Viral carcinogenesis","Constitutive Signaling by NOTCH1 PEST Domain Mutants","Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants","Notch-HLH transcription pathway","Pre-NOTCH Transcription and Translation","NOTCH1 Intracellular Domain Regulates Transcription","RUNX3 regulates NOTCH signaling","NOTCH3 Intracellular Domain Regulates Transcription","NOTCH4 Intracellular Domain Regulates Transcription"]	[]

KAT2A (lysine acetyltransferase 2A)

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