KAT2A (lysine acetyltransferase 2A)

Gene

• Entrez ID: 2648
• Gene name: Lysine acetyltransferase 2A
• Gene symbol: KAT2A
• Synonyms (NCBI Gene): GCN5, GCN5L2, PCAF-b, hGCN5
• 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-

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 602301
• HGNC: 4201
• e!Ensembl: ENSG00000108773

Protein

• UniProt ID: 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
  PF06466	PCAF_N	86 → 336	PCAF (P300/CBP-associated factor) N-terminal domain	Domain
  PF00583	Acetyltransf_1	517 → 627	Acetyltransferase (GNAT) family	Family
  PF00439	Bromodomain	737 → 820	Bromodomain	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

Pathways

KEGG:

Viral life cycle - HIV-1
Notch signaling pathway
Thyroid hormone signaling pathway
Human T-cell leukemia virus 1 infection
Viral carcinogenesis

Reactome:

Pre-NOTCH Transcription and Translation
NOTCH1 Intracellular Domain Regulates Transcription
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
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

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ 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	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
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