KAT5 (lysine acetyltransferase 5)

Gene

• Entrez ID: 10524
• Gene name: Lysine acetyltransferase 5
• Gene symbol: KAT5
• Synonyms (NCBI Gene): ESA1, HTATIP, HTATIP1, NEDFASB, PLIP, TIP, TIP60, ZC2HC5, cPLA2
• Chromosome: 11
• Chromosome location: 11q13.1
• Summary: The protein encoded by this gene belongs to the MYST family of histone acetyl transferases (HATs) and was originally isolated as an HIV-1 TAT-interactive protein. HATs play important roles in regulating chromatin remodeling, transcription and other nuclea

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT039033	hsa-miR-766-3p	CLASH	23622248
MIRT1078687	hsa-miR-1203	CLIP-seq
MIRT1078688	hsa-miR-1225-3p	CLIP-seq
MIRT1078689	hsa-miR-1233	CLIP-seq
MIRT1078690	hsa-miR-1271	CLIP-seq
MIRT1078691	hsa-miR-1910	CLIP-seq
MIRT1078692	hsa-miR-370	CLIP-seq
MIRT1078693	hsa-miR-3907	CLIP-seq
MIRT1078694	hsa-miR-3940-3p	CLIP-seq
MIRT1078695	hsa-miR-4303	CLIP-seq
MIRT1078696	hsa-miR-96	CLIP-seq
MIRT1078697	hsa-miR-3065-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ATF2	Repression	18397884
CLOCK	Unknown	18458078

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	26291311
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	17360565
GO:0000123	Component	Histone acetyltransferase complex	IEA
GO:0000132	Process	Establishment of mitotic spindle orientation	IDA	34608293
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	29670289, 30612738
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	27153538
GO:0000724	Process	Double-strand break repair via homologous recombination	IEA
GO:0000729	Process	DNA double-strand break processing	IDA	15064416, 15790808, 26240375
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IDA	26829474
GO:0000776	Component	Kinetochore	IEA
GO:0000785	Component	Chromatin	IDA	29335245, 33076429
GO:0000786	Component	Nucleosome	IDA	27153538
GO:0000812	Component	Swr1 complex	IDA	24463511
GO:0000922	Component	Spindle pole	IEA
GO:0002376	Process	Immune system process	IEA
GO:0003682	Function	Chromatin binding	IDA	29335245, 33076429
GO:0003682	Function	Chromatin binding	IEA
GO:0003713	Function	Transcription coactivator activity	IDA	14966270
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0003713	Function	Transcription coactivator activity	TAS	17360565
GO:0004402	Function	Histone acetyltransferase activity	IDA	18397884, 25301942, 29335245
GO:0004402	Function	Histone acetyltransferase activity	IEA
GO:0004402	Function	Histone acetyltransferase activity	IMP	17996965, 32822602
GO:0005515	Function	Protein binding	IDA	32832608
GO:0005515	Function	Protein binding	IPI	10966108, 15383276, 15647280, 16169070, 16230350, 17110330, 17360565, 17996965, 18087039, 18397884, 18451177, 18485870, 18509338, 19909775, 21157427, 21699783, 21936881, 21988832, 22081016, 22094252, 24525235, 25245946, 25416956, 26829474, 26945015, 27107012, 30704899, 31515488, 322
GO:0005634	Component	Nucleus	IDA	17996965, 24012345, 25301942
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	14966270
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IDA	16387653
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IDA	25301942
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006289	Process	Nucleotide-excision repair	IDA	32034146
GO:0006302	Process	Double-strand break repair	IDA	26438602
GO:0006302	Process	Double-strand break repair	TAS
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IDA	27153538
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006646	Process	Phosphatidylethanolamine biosynthetic process	IDA	19915674
GO:0006656	Process	Phosphatidylcholine biosynthetic process	IDA	34077757
GO:0006915	Process	Apoptotic process	IEA
GO:0006974	Process	DNA damage response	IDA	33076429
GO:0006974	Process	DNA damage response	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0007286	Process	Spermatid development	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0010212	Process	Response to ionizing radiation	IDA	18397884
GO:0010485	Function	Histone H4 acetyltransferase activity	IDA	10966108
GO:0010506	Process	Regulation of autophagy	IEA
GO:0010508	Process	Positive regulation of autophagy	IDA	30704899
GO:0010508	Process	Positive regulation of autophagy	IEA
GO:0010867	Process	Positive regulation of triglyceride biosynthetic process	IDA	29765047
GO:0016407	Function	Acetyltransferase activity	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0018394	Process	Peptidyl-lysine acetylation	IDA	30704899
GO:0019432	Process	Triglyceride biosynthetic process	IDA	29765047
GO:0021915	Process	Neural tube development	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0030330	Process	DNA damage response, signal transduction by p53 class mediator	IDA	14966270
GO:0031981	Component	Nuclear lumen	IEA
GO:0032703	Process	Negative regulation of interleukin-2 production	IDA	17360565
GO:0032777	Component	Piccolo histone acetyltransferase complex	IDA	14966270
GO:0033554	Process	Cellular response to stress	IEA
GO:0035092	Process	Sperm DNA condensation	IEA
GO:0035267	Component	NuA4 histone acetyltransferase complex	IBA
GO:0035267	Component	NuA4 histone acetyltransferase complex	IDA	10966108, 14966270, 27153538
GO:0035267	Component	NuA4 histone acetyltransferase complex	IEA
GO:0035861	Component	Site of double-strand break	IDA	27153538
GO:0035973	Process	Aggrephagy	IDA	17580304, 22017874, 31857589
GO:0042149	Process	Cellular response to glucose starvation	IDA	34077757
GO:0042753	Process	Positive regulation of circadian rhythm	IEA
GO:0042753	Process	Positive regulation of circadian rhythm	ISS
GO:0042981	Process	Regulation of apoptotic process	NAS	14966270
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	18397884
GO:0043998	Function	Histone H2A acetyltransferase activity	IDA	10966108, 27153538
GO:0043999	Function	Histone H2AK5 acetyltransferase activity	IDA	26438602
GO:0045087	Process	Innate immune response	IEA
GO:0045089	Process	Positive regulation of innate immune response	IDA	32817552
GO:0045591	Process	Positive regulation of regulatory T cell differentiation	IDA	24835996
GO:0045591	Process	Positive regulation of regulatory T cell differentiation	IEA
GO:0045662	Process	Negative regulation of myoblast differentiation	IDA	26291311
GO:0045663	Process	Positive regulation of myoblast differentiation	IDA	26291311
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	17360565
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	14966270
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	27153538
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	26291311, 33076429
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	29335245, 33076429
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	23637611
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	NAS	14966270
GO:0046872	Function	Metal ion binding	IEA
GO:0046972	Function	Histone H4K16 acetyltransferase activity	IBA
GO:0046972	Function	Histone H4K16 acetyltransferase activity	IDA	33076429
GO:0046972	Function	Histone H4K16 acetyltransferase activity	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051315	Process	Attachment of mitotic spindle microtubules to kinetochore	IDA	30409912
GO:0051726	Process	Regulation of cell cycle	IMP	27153538
GO:0061733	Function	Protein-lysine-acetyltransferase activity	IDA	17189187, 24835996, 25301942, 26291311, 26829474, 29765047, 30409912, 30704899, 31857589, 32034146, 32817552, 34077757
GO:0061733	Function	Protein-lysine-acetyltransferase activity	IEA
GO:0062033	Process	Positive regulation of mitotic sister chromatid segregation	IDA	26829474
GO:0071211	Process	Protein targeting to vacuole involved in autophagy	IDA	37802024
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0071392	Process	Cellular response to estradiol stimulus	IDA	23637611
GO:0090398	Process	Cellular senescence	TAS
GO:0097431	Component	Mitotic spindle pole	IDA	34608293
GO:0106226	Function	Peptide 2-hydroxyisobutyryltransferase activity	IEA
GO:0120300	Function	Peptide lactyltransferase (CoA-dependent) activity	IDA	38961290
GO:0120300	Function	Peptide lactyltransferase (CoA-dependent) activity	IEA
GO:0140064	Function	Peptide crotonyltransferase activity	IDA	34608293
GO:0140064	Function	Peptide crotonyltransferase activity	IEA
GO:0140065	Function	Peptide butyryltransferase activity	IDA	29192674
GO:0140297	Function	DNA-binding transcription factor binding	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	17360565
GO:0140694	Process	Membraneless organelle assembly	IDA	29343546, 29507397
GO:0140861	Process	DNA repair-dependent chromatin remodeling	IDA	25301942
GO:0140861	Process	DNA repair-dependent chromatin remodeling	IDA	25301942
GO:0140861	Process	DNA repair-dependent chromatin remodeling	IMP	10966108
GO:0140896	Process	CGAS/STING signaling pathway	IDA	32911482, 32912999
GO:1901701	Process	Cellular response to oxygen-containing compound	IEA
GO:1901985	Process	Positive regulation of protein acetylation	IDA	24012345
GO:1902036	Process	Regulation of hematopoietic stem cell differentiation	IEA
GO:1902036	Process	Regulation of hematopoietic stem cell differentiation	ISS
GO:1902425	Process	Positive regulation of attachment of mitotic spindle microtubules to kinetochore	IDA	30409912
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IDA	27153538, 32832608, 38961290
GO:1905337	Process	Positive regulation of aggrephagy	IDA	31857589
GO:1905691	Process	Lipid droplet disassembly	IDA	34077757
GO:1990166	Process	Protein localization to site of double-strand break	IDA	18411307, 18583988
GO:2000042	Process	Negative regulation of double-strand break repair via homologous recombination	IDA	32832608
GO:2000779	Process	Regulation of double-strand break repair	NAS	14966270

Other IDs

• MIM: 601409
• HGNC: 5275
• e!Ensembl: ENSG00000172977

Protein

• UniProt ID: Q92993
• Protein name: Histone acetyltransferase KAT5 (EC 2.3.1.48) (60 kDa Tat-interactive protein) (Tip60) (Histone acetyltransferase HTATIP) (HIV-1 Tat interactive protein) (Lysine acetyltransferase 5) (Protein 2-hydroxyisobutyryltransferase KAT5) (EC 2.3.1.-) (Protein acety
• Protein function: Catalytic subunit of the NuA4 histone acetyltransferase complex, a multiprotein complex involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H2A and H4 (PubMed:12776177, PubMed:14966270, PubMe
• PDB: 2EKO, 2OU2, 4QQG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11717	Tudor-knot	7 → 65	RNA binding activity-knot of a chromodomain	Family
  PF17772	zf-MYST	229 → 283	MYST family zinc finger domain	Domain
  PF01853	MOZ_SAS	288 → 471	MOZ/SAS family	Family

• Sequence:

  MAEVGEIIEGCRLPVLRRNQDNEDEWPLAEILSVKDISGRKLFYVHYIDFNKRLDEWVTH
  ERLDLKKIQFPKKEAKTPTKNGLPGSRPGSPEREVPASAQASGKTLPIPVQITLRFNLPK
  EREAIPGGEPDQPLSSSSCLQPNHRSTKRKVEVVSPATPVPSETAPASVFPQNGAARRAV
  AAQPGRKRKSNCLGTDEDSQDSSDGIPSAPRMTGSLVSDRSHDDIVTRMKNIECIELGRH
  RLKPWYFSPYPQELTTLPVLYLCEFCLKYGRSLKCLQRHLTKCDLRHPPGNEIYRKGTIS
  FFEIDGRKNKSYSQNLCLLAKCFLDHKTLYYDTDPFLFYVMTEYDCKGFHIVGYFSKEKE
  STEDYNVACILTLPPYQRRGYGKLLIEFSYELSKVEGKTGTPEKPLSDLGLLSYRSYWSQ
  TILEILMGLKSESGERPQITINEISEITSIKKEDVISTLQYLNLINYYKGQYILTLSEDI
  VDGHERAMLKRLLRIDSKCLHFTPKDWSKRGKW

• Sequence length: 513

Pathways

KEGG:

ATP-dependent chromatin remodeling
Spinocerebellar ataxia
Human T-cell leukemia virus 1 infection

Reactome:

Formation of the beta-catenin:TCF transactivating complex
DNA Damage/Telomere Stress Induced Senescence
HDR through Single Strand Annealing (SSA)
HDR through Homologous Recombination (HRR)
Sensing of DNA Double Strand Breaks
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Resolution of D-loop Structures through Holliday Junction Intermediates
Nonhomologous End-Joining (NHEJ)
Homologous DNA Pairing and Strand Exchange
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint
Estrogen-dependent gene expression

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	Pathogenic	rs1857071943, rs1857215256, rs1857290083	RCV001269344 RCV001269345 RCV001269346	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial colorectal cancer	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KAT5-related disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	29174981		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	15988028		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	20464283		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	28993924		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	30400007		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	27436223		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	26767057	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	11897617		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	30954385	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASDB_DG	20884846, 23263486		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	24086722		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	17672871, 24204651		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	18625847	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	29435417, 30400007		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	11897617		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	28724385		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	24835996		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	12717424		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	20038946		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	22068108		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	26915295		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26512777, 30324811, 30846725		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24947938, 26166158, 26512777, 27581651, 30846725, 33099470	Associate	★☆☆☆☆ Found in Text Mining only
Bronchial Hyperreactivity	Bronchial Hyperreactivity	BEFREE	17672871		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22110127, 31894128, 35705031	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	17728759		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29174981, 35383533, 36308411	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26464124, 28819431, 30936993		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37365518	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	31601649	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	21421277		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	32822602	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29045464		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29045464		★☆☆☆☆ Found in Text Mining only
Childhood Hepatocellular Carcinoma	Liver carcinoma	BEFREE	29174981		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	30308494		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	31072879		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15788676, 15975962		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	15788676		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12048163, 19169279, 19846935, 30053221		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19846935	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35876654, 35951156	Associate	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	30308494		★☆☆☆☆ Found in Text Mining only
Convulsions in the newborn	Convulsions	BEFREE	30092488		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	7590434		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	28643178		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32822602	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	32099032	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysplastic Nevus	Dysplastic Nevus	BEFREE	22673729		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	32822602	Associate	★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	32822602	Associate	★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	31412255		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	18263878, 28634400		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	18263878, 26446986, 28634400	Associate	★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	18263878, 28634400		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	24427328		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	24427328	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26464124		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26464124		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	39361872	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASDB_DG	20884846, 23263486		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	12598909		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	34272941	Inhibit	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	31072879		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	32099032	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Hypoxia	Pubtator	30385847	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	26922534		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	32822602	Associate	★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	29740418		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	12737628		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	22110127	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	22110127	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	18754862		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22249179, 29174981, 31188495, 31324186		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	17728759		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26166158, 26512777, 26915295, 30324811, 30846725		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29174981, 30154425		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26464124, 28819431, 30936993		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12717424, 16598769, 23056207, 23646189, 24294372, 28511652, 29435417, 31671779		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21273583		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19787264, 19846935, 21273583, 22673729, 26512777, 26638912, 28900272, 29045464, 29740418, 30053221, 30154154, 30154425, 30559296		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29045464		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	15788676, 15975962		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	22199269, 25310526, 26915295, 30324811		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19747926, 22673729		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	22673729	Inhibit	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	25784655	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	26780987	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	11897617, 29420715		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	29654189		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	19218359		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	28634400	Stimulate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	31073033		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	31073033	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12048163, 12927514, 15788676, 16912189, 17728759, 18722548, 19731416, 19846935, 22199269, 22673729, 26464124, 26915295, 28819431, 29045464, 29174981, 30053221, 30154154, 30308494, 30324811, 30846725, 30936993, 31072879		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	19855947		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	22982579		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	15540987, 18025046		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	11897617		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	30385847	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	30385847	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	36937804	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31218831		★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	31202036		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35283423	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12717424, 16598769, 23056207, 23646189, 24294372, 28511652, 29435417, 31671779		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23056207, 28511652, 31671779	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	30142696		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	36937804	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	19966781		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29342227		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	20112284, 30954385		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	35710139	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11353443, 11807411, 12759552, 15999343, 30103930		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	32822602	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	10627477		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	22982579		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	17110330		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	31601649		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21273583		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	30954385	Associate	★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	30251689		★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	30296502		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	27581651		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	29045464	Inhibit	★☆☆☆☆ Found in Text Mining only