APEX1 (apurinic/apyrimidinic endodeoxyribonuclease 1)

Gene

• Entrez ID: 328
• Gene name: Apurinic/apyrimidinic endodeoxyribonuclease 1
• Gene symbol: APEX1
• Synonyms (NCBI Gene): APE, APE1, APEN, APEX, APX, HAP1, REF1
• Chromosome: 14
• Chromosome location: 14q11.2
• Summary: The APEX gene encodes the major AP endonuclease in human cells. It encodes the APEX endonuclease, a DNA repair enzyme with apurinic/apyrimidinic (AP) activity. Such AP activity sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA dama

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050830	hsa-miR-17-5p	CLASH	23622248
MIRT048610	hsa-miR-99a-5p	CLASH	23622248
MIRT048405	hsa-miR-100-5p	CLASH	23622248
MIRT045386	hsa-miR-185-5p	CLASH	23622248
MIRT036701	hsa-miR-935	CLASH	23622248
MIRT481806	hsa-miR-3681-3p	PAR-CLIP	20371350
MIRT481805	hsa-miR-216a-3p	PAR-CLIP	20371350
MIRT481804	hsa-miR-128-3p	PAR-CLIP	20371350
MIRT481803	hsa-miR-27a-3p	PAR-CLIP	20371350
MIRT481802	hsa-miR-27b-3p	PAR-CLIP	20371350
MIRT481799	hsa-miR-1197	PAR-CLIP	20371350
MIRT481796	hsa-miR-4678	PAR-CLIP	20371350
MIRT481792	hsa-miR-135a-3p	PAR-CLIP	20371350
MIRT481774	hsa-miR-597-5p	PAR-CLIP	20371350
MIRT481770	hsa-miR-331-5p	PAR-CLIP	20371350
MIRT481806	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT481805	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT481804	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT481803	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT481802	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT481801	hsa-miR-3609	PAR-CLIP	23592263
MIRT481800	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT481799	hsa-miR-1197	PAR-CLIP	23592263
MIRT481798	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT481797	hsa-miR-6782-5p	PAR-CLIP	23592263
MIRT481796	hsa-miR-4678	PAR-CLIP	23592263
MIRT481795	hsa-miR-1245a	PAR-CLIP	23592263
MIRT481794	hsa-miR-8079	PAR-CLIP	23592263
MIRT481793	hsa-miR-8062	PAR-CLIP	23592263
MIRT481792	hsa-miR-135a-3p	PAR-CLIP	23592263
MIRT481791	hsa-miR-3973	PAR-CLIP	23592263
MIRT481790	hsa-miR-520g-3p	PAR-CLIP	23592263
MIRT481789	hsa-miR-520h	PAR-CLIP	23592263
MIRT481788	hsa-miR-6890-3p	PAR-CLIP	23592263
MIRT481787	hsa-miR-3155a	PAR-CLIP	23592263
MIRT481786	hsa-miR-3155b	PAR-CLIP	23592263
MIRT481785	hsa-miR-484	PAR-CLIP	23592263
MIRT481784	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT481783	hsa-miR-1915-3p	PAR-CLIP	23592263
MIRT481782	hsa-miR-6764-5p	PAR-CLIP	23592263
MIRT481781	hsa-miR-4726-3p	PAR-CLIP	23592263
MIRT341107	hsa-miR-27a-5p	PAR-CLIP	23592263
MIRT481780	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT481779	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT481778	hsa-miR-4651	PAR-CLIP	23592263
MIRT481777	hsa-miR-608	PAR-CLIP	23592263
MIRT481776	hsa-miR-1293	PAR-CLIP	23592263
MIRT481775	hsa-miR-4483	PAR-CLIP	23592263
MIRT481774	hsa-miR-597-5p	PAR-CLIP	23592263
MIRT481773	hsa-miR-6824-5p	PAR-CLIP	23592263
MIRT481772	hsa-miR-6789-5p	PAR-CLIP	23592263
MIRT481771	hsa-miR-4278	PAR-CLIP	23592263
MIRT481770	hsa-miR-331-5p	PAR-CLIP	23592263
MIRT481769	hsa-miR-7977	PAR-CLIP	23592263
MIRT481768	hsa-miR-2909	PAR-CLIP	23592263
MIRT481803	hsa-miR-27a-3p	HITS-CLIP	22473208
MIRT481802	hsa-miR-27b-3p	HITS-CLIP	22473208
MIRT481783	hsa-miR-1915-3p	PAR-CLIP	26701625
MIRT481783	hsa-miR-1915-3p	PAR-CLIP	26701625
MIRT341107	hsa-miR-27a-5p	PAR-CLIP	26701625
MIRT341107	hsa-miR-27a-5p	PAR-CLIP	26701625
MIRT481787	hsa-miR-3155a	PAR-CLIP	26701625
MIRT481787	hsa-miR-3155a	PAR-CLIP	26701625
MIRT481786	hsa-miR-3155b	PAR-CLIP	26701625
MIRT481786	hsa-miR-3155b	PAR-CLIP	26701625
MIRT481801	hsa-miR-3609	PAR-CLIP	26701625
MIRT481801	hsa-miR-3609	PAR-CLIP	26701625
MIRT481791	hsa-miR-3973	PAR-CLIP	26701625
MIRT481791	hsa-miR-3973	PAR-CLIP	26701625
MIRT481781	hsa-miR-4726-3p	PAR-CLIP	26701625
MIRT481781	hsa-miR-4726-3p	PAR-CLIP	26701625
MIRT481785	hsa-miR-484	PAR-CLIP	26701625
MIRT481785	hsa-miR-484	PAR-CLIP	26701625
MIRT481790	hsa-miR-520g-3p	PAR-CLIP	26701625
MIRT481790	hsa-miR-520g-3p	PAR-CLIP	26701625
MIRT481789	hsa-miR-520h	PAR-CLIP	26701625
MIRT481789	hsa-miR-520h	PAR-CLIP	26701625
MIRT481800	hsa-miR-548ah-5p	PAR-CLIP	26701625
MIRT481800	hsa-miR-548ah-5p	PAR-CLIP	26701625
MIRT481782	hsa-miR-6764-5p	PAR-CLIP	26701625
MIRT481782	hsa-miR-6764-5p	PAR-CLIP	26701625
MIRT481798	hsa-miR-6805-5p	PAR-CLIP	26701625
MIRT481798	hsa-miR-6805-5p	PAR-CLIP	26701625
MIRT481784	hsa-miR-6840-3p	PAR-CLIP	26701625
MIRT481784	hsa-miR-6840-3p	PAR-CLIP	26701625
MIRT481780	hsa-miR-6846-5p	PAR-CLIP	26701625
MIRT481780	hsa-miR-6846-5p	PAR-CLIP	26701625
MIRT481779	hsa-miR-6848-5p	PAR-CLIP	26701625
MIRT481779	hsa-miR-6848-5p	PAR-CLIP	26701625
MIRT481769	hsa-miR-7977	PAR-CLIP	26701625
MIRT481769	hsa-miR-7977	PAR-CLIP	26701625
MIRT481776	hsa-miR-1293	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), Immunofluorescence, qRT-PCR, In situ hybridization	32320642
MIRT481806	hsa-miR-3681-3p	PAR-CLIP	20371350
MIRT481805	hsa-miR-216a-3p	PAR-CLIP	20371350
MIRT481804	hsa-miR-128-3p	PAR-CLIP	20371350
MIRT481803	hsa-miR-27a-3p	PAR-CLIP	20371350
MIRT481802	hsa-miR-27b-3p	PAR-CLIP	20371350
MIRT481799	hsa-miR-1197	PAR-CLIP	20371350
MIRT481796	hsa-miR-4678	PAR-CLIP	20371350
MIRT481792	hsa-miR-135a-3p	PAR-CLIP	20371350
MIRT481774	hsa-miR-597-5p	PAR-CLIP	20371350
MIRT481770	hsa-miR-331-5p	PAR-CLIP	20371350
MIRT481806	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT481805	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT481804	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT481803	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT481802	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT481801	hsa-miR-3609	PAR-CLIP	23592263
MIRT481800	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT481799	hsa-miR-1197	PAR-CLIP	23592263
MIRT481798	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT481797	hsa-miR-6782-5p	PAR-CLIP	23592263
MIRT481796	hsa-miR-4678	PAR-CLIP	23592263
MIRT481795	hsa-miR-1245a	PAR-CLIP	23592263
MIRT481794	hsa-miR-8079	PAR-CLIP	23592263
MIRT481793	hsa-miR-8062	PAR-CLIP	23592263
MIRT481792	hsa-miR-135a-3p	PAR-CLIP	23592263
MIRT481791	hsa-miR-3973	PAR-CLIP	23592263
MIRT481790	hsa-miR-520g-3p	PAR-CLIP	23592263
MIRT481789	hsa-miR-520h	PAR-CLIP	23592263
MIRT481788	hsa-miR-6890-3p	PAR-CLIP	23592263
MIRT481787	hsa-miR-3155a	PAR-CLIP	23592263
MIRT481786	hsa-miR-3155b	PAR-CLIP	23592263
MIRT481785	hsa-miR-484	PAR-CLIP	23592263
MIRT481784	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT481783	hsa-miR-1915-3p	PAR-CLIP	23592263
MIRT481782	hsa-miR-6764-5p	PAR-CLIP	23592263
MIRT481781	hsa-miR-4726-3p	PAR-CLIP	23592263
MIRT341107	hsa-miR-27a-5p	PAR-CLIP	23592263
MIRT481780	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT481779	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT481778	hsa-miR-4651	PAR-CLIP	23592263
MIRT481777	hsa-miR-608	PAR-CLIP	23592263
MIRT481776	hsa-miR-1293	PAR-CLIP	23592263
MIRT481775	hsa-miR-4483	PAR-CLIP	23592263
MIRT481774	hsa-miR-597-5p	PAR-CLIP	23592263
MIRT481773	hsa-miR-6824-5p	PAR-CLIP	23592263
MIRT481772	hsa-miR-6789-5p	PAR-CLIP	23592263
MIRT481771	hsa-miR-4278	PAR-CLIP	23592263
MIRT481770	hsa-miR-331-5p	PAR-CLIP	23592263
MIRT481769	hsa-miR-7977	PAR-CLIP	23592263
MIRT481768	hsa-miR-2909	PAR-CLIP	23592263
MIRT789085	hsa-miR-1252	CLIP-seq
MIRT789086	hsa-miR-186	CLIP-seq
MIRT789087	hsa-miR-1915	CLIP-seq
MIRT789088	hsa-miR-3133	CLIP-seq
MIRT789089	hsa-miR-3155	CLIP-seq
MIRT789090	hsa-miR-3184	CLIP-seq
MIRT789091	hsa-miR-3613-3p	CLIP-seq
MIRT789092	hsa-miR-3659	CLIP-seq
MIRT789093	hsa-miR-3671	CLIP-seq
MIRT789094	hsa-miR-3921	CLIP-seq
MIRT789095	hsa-miR-4653-5p	CLIP-seq
MIRT789096	hsa-miR-4703-3p	CLIP-seq
MIRT789097	hsa-miR-4709-3p	CLIP-seq
MIRT789098	hsa-miR-4790-3p	CLIP-seq
MIRT789099	hsa-miR-520g	CLIP-seq
MIRT789100	hsa-miR-548ac	CLIP-seq
MIRT789101	hsa-miR-548c-3p	CLIP-seq
MIRT789102	hsa-miR-548d-3p	CLIP-seq
MIRT789103	hsa-miR-548z	CLIP-seq
MIRT789091	hsa-miR-3613-3p	CLIP-seq
MIRT789093	hsa-miR-3671	CLIP-seq
MIRT789104	hsa-miR-4443	CLIP-seq
MIRT789105	hsa-miR-513a-5p	CLIP-seq
MIRT789100	hsa-miR-548ac	CLIP-seq
MIRT789102	hsa-miR-548d-3p	CLIP-seq
MIRT789103	hsa-miR-548z	CLIP-seq
MIRT789106	hsa-miR-765	CLIP-seq
MIRT1932775	hsa-miR-1261	CLIP-seq
MIRT1932776	hsa-miR-384	CLIP-seq
MIRT789104	hsa-miR-4443	CLIP-seq
MIRT1932777	hsa-miR-4760-3p	CLIP-seq
MIRT789105	hsa-miR-513a-5p	CLIP-seq
MIRT789106	hsa-miR-765	CLIP-seq
MIRT2476159	hsa-miR-1244	CLIP-seq
MIRT1932775	hsa-miR-1261	CLIP-seq
MIRT2476160	hsa-miR-135a	CLIP-seq
MIRT2476161	hsa-miR-135b	CLIP-seq
MIRT2476162	hsa-miR-3607-5p	CLIP-seq
MIRT2476163	hsa-miR-3691-5p	CLIP-seq
MIRT2476164	hsa-miR-375	CLIP-seq
MIRT2476165	hsa-miR-4491	CLIP-seq
MIRT2476166	hsa-miR-4657	CLIP-seq
MIRT2476167	hsa-miR-4738-3p	CLIP-seq
MIRT2476168	hsa-miR-4752	CLIP-seq
MIRT1932777	hsa-miR-4760-3p	CLIP-seq
MIRT2476169	hsa-miR-760	CLIP-seq
MIRT2476159	hsa-miR-1244	CLIP-seq
MIRT1932775	hsa-miR-1261	CLIP-seq
MIRT2476160	hsa-miR-135a	CLIP-seq
MIRT2476161	hsa-miR-135b	CLIP-seq
MIRT2476162	hsa-miR-3607-5p	CLIP-seq
MIRT2476163	hsa-miR-3691-5p	CLIP-seq
MIRT2476164	hsa-miR-375	CLIP-seq
MIRT2476165	hsa-miR-4491	CLIP-seq
MIRT2476166	hsa-miR-4657	CLIP-seq
MIRT2476167	hsa-miR-4738-3p	CLIP-seq
MIRT2476168	hsa-miR-4752	CLIP-seq
MIRT1932777	hsa-miR-4760-3p	CLIP-seq
MIRT2476169	hsa-miR-760	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HIF1A	Repression	19524065
SP1	Repression	18208837
SP1	Unknown	7534297
USF1	Unknown	7534297

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000723	Process	Telomere maintenance	IDA	24703901
GO:0000781	Component	Chromosome, telomeric region	IC	24703901
GO:0003677	Function	DNA binding	IDA	11286553
GO:0003677	Function	DNA binding	IEA
GO:0003684	Function	Damaged DNA binding	IDA	12524539, 14706345, 24703901
GO:0003691	Function	Double-stranded telomeric DNA binding	IDA	24703901
GO:0003713	Function	Transcription coactivator activity	IDA	9119221, 18809583
GO:0003714	Function	Transcription corepressor activity	TAS	7961715
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0003906	Function	DNA-(apurinic or apyrimidinic site) endonuclease activity	IBA
GO:0003906	Function	DNA-(apurinic or apyrimidinic site) endonuclease activity	IDA	8932386, 15707971, 18973764, 19188445, 24703901
GO:0003906	Function	DNA-(apurinic or apyrimidinic site) endonuclease activity	TAS	9119221
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IDA	11478795
GO:0004519	Function	Endonuclease activity	IEA
GO:0004520	Function	DNA endonuclease activity	TAS	1722334
GO:0004523	Function	RNA-DNA hybrid ribonuclease activity	TAS	11286553
GO:0004527	Function	Exonuclease activity	IEA
GO:0004528	Function	Phosphodiesterase I activity	TAS	9119221
GO:0004844	Function	Uracil DNA N-glycosylase activity	TAS
GO:0005515	Function	Protein binding	IPI	8621488, 9108029, 9207062, 11118054, 11809897, 12524539, 15518571, 15942031, 18809583, 19188445, 19465398, 19505873, 19934257, 20231292, 20696907, 20808282, 20856196, 26760506, 28514442, 32911434, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	9119221, 15942031, 19934257, 28404743
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	17148573
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	17148573, 19188445
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IDA	9560228
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	20231292
GO:0005739	Component	Mitochondrion	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	12524539
GO:0005813	Component	Centrosome	IDA
GO:0005840	Component	Ribosome	TAS	12524539
GO:0006281	Process	DNA repair	IDA	1627644, 9560228
GO:0006281	Process	DNA repair	IEA
GO:0006284	Process	Base-excision repair	IBA
GO:0006284	Process	Base-excision repair	IDA	8932386
GO:0006287	Process	Base-excision repair, gap-filling	TAS
GO:0006308	Process	DNA catabolic process	IDA	1627644
GO:0006310	Process	DNA recombination	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0008081	Function	Phosphoric diester hydrolase activity	IBA
GO:0008081	Function	Phosphoric diester hydrolase activity	IDA	11478795, 18973764
GO:0008296	Function	3'-5'-DNA exonuclease activity	IDA	1627644
GO:0008309	Function	Double-stranded DNA exodeoxyribonuclease activity	IDA	24703901
GO:0008311	Function	Double-stranded DNA 3'-5' DNA exonuclease activity	IBA
GO:0008408	Function	3'-5' exonuclease activity	IDA	11832948
GO:0008408	Function	3'-5' exonuclease activity	TAS	11286553
GO:0016491	Function	Oxidoreductase activity	IDA	9119221, 12524539
GO:0016607	Component	Nuclear speck	IDA	17148573
GO:0016607	Component	Nuclear speck	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031490	Function	Chromatin DNA binding	IDA	11809897
GO:0033892	Function	Deoxyribonuclease (pyrimidine dimer) activity	IDA	19188445, 24703901
GO:0042981	Process	Regulation of apoptotic process	IDA	19934257
GO:0043488	Process	Regulation of mRNA stability	IMP	19401441
GO:0044029	Process	Positive regulation of gene expression via chromosomal CpG island demethylation	IDA	21496894
GO:0045454	Process	Cell redox homeostasis	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	18809583
GO:0046872	Function	Metal ion binding	IDA	11286553
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	12524539
GO:0052720	Function	Class II DNA-(apurinic or apyrimidinic site) endonuclease activity	IDA	1627644, 9804798, 11160897, 11286553
GO:0090580	Function	Phosphodiesterase activity, acting on 3'-phosphoglycolate-terminated DNA strands	IDA	1627644
GO:0097698	Process	Telomere maintenance via base-excision repair	IDA	24703901
GO:0140431	Function	DNA-(abasic site) binding	IMP	9804798

Other IDs

• MIM: 107748
• HGNC: 587
• e!Ensembl: ENSG00000100823

Protein

• UniProt ID: P27695
• Protein name: DNA repair nuclease/redox regulator APEX1 (EC 3.1.11.2) (EC 3.1.21.-) (APEX nuclease) (APEN) (Apurinic-apyrimidinic endonuclease 1) (AP endonuclease 1) (APE-1) (DNA-(apurinic or apyrimidinic site) endonuclease) (Redox factor-1) (REF-1) [Cleaved into: DNA
• Protein function: Multifunctional protein that plays a central role in the cellular response to oxidative stress. The two major activities of APEX1 are DNA repair and redox regulation of transcriptional factors (PubMed:11118054, PubMed:11452037, PubMed:15831793,
• PDB: 1BIX, 1CQG, 1CQH, 1DE8, 1DE9, 1DEW, 1E9N, 1HD7, 2ISI, 2O3H, 3U8U, 4IEM, 4LND, 4QH9, 4QHD, 4QHE, 5CFG, 5DFF, 5DFH, 5DFI, 5DFJ, 5DG0, 5WN0, 5WN1, 5WN2, 5WN3, 5WN4, 5WN5, 6BOQ, 6BOR, 6BOS, 6BOT, 6BOU, 6BOV, 6BOW, 6MK3, 6MKK, 6MKM, 6MKO, 6P93, 6P94, 6W0Q, 6W2P, 6W3L, 6W3N, 6W3Q, 6W3U, 6W43, 6W4I, 6W4T, 7LPG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03372	Exo_endo_phos	65 → 309	Endonuclease/Exonuclease/phosphatase family	Domain

• Sequence:

  MPKRGKKGAVAEDGDELRTEPEAKKSKTAAKKNDKEAAGEGPALYEDPPDQKTSPSGKPA
  TLKICSWNVDGLRAWIKKKGLDWVKEEAPDILCLQETKCSENKLPAELQELPGLSHQYWS
  APSDKEGYSGVGLLSRQCPLKVSYGIGDEEHDQEGRVIVAEFDSFVLVTAYVPNAGRGLV
  RLEYRQRWDEAFRKFLKGLASRKPLVLCGDLNVAHEEIDLRNPKGNKKNAGFTPQERQGF
  GELLQAVPLADSFRHLYPNTPYAYTFWTYMMNARSKNVGWRLDYFLLSHSLLPALCDSKI
  RSKALGSDHCPITLYLAL

• Sequence length: 318

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
AMYOTROPHIC LATERAL SCLEROSIS	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APEX1-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN INJURIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC PREDISPOSITION TO DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Head and neck cancer	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE PRE-ECLAMPSIA, UNSPECIFIED AS TO EPISODE OF CARE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	LHGDN	18466396		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	19414392, 21198260, 28523411		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21722819, 23065211, 23509821, 23951099, 30382076		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	27602772		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	18466396, 19864471, 20534734		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	23951112		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	28501783, 30538199		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	29750271		★☆☆☆☆ Found in Text Mining only
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	11846302		★☆☆☆☆ Found in Text Mining only
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	LHGDN	11846302		★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	20534734		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	10371543, 12230304, 12467894, 18482781, 31036086, 9507962		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	LHGDN	12230304		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	32005289	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	18482781		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27535970, 30214007		★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	23094050	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	24727738		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17045925		★☆☆☆☆ Found in Text Mining only
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	Ataxia-oculomotor apraxia	BEFREE	19643912, 25976310		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17045925		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	29991802		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	29991802, 33887608	Associate	★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	31218684		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	31218684	Associate	★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	31218684		★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	17984110, 20087352, 28090501		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	16425270, 17220334, 19041121, 19242824, 20218899, 22019847, 23143180, 25672588, 27153553, 31413178		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	20679741, 28614736, 30538199		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15113441, 15330152, 15878096, 17922186, 18669164, 18701435, 22713458, 23272074, 23755158, 23994194, 24076439, 24381055, 24414702, 24606430, 24642895, 24893568, 25111287, 25292033, 26257461, 26314200, 28034453, 29720094, 30989461		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18701435, 19460860, 23631762, 23755158, 24606430, 24642895, 24914806, 25111287, 25292033, 26125438, 26257461, 29720094	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	30877298		★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	28515448	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25268610, 28464393, 31308045, 35485688, 35780128	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	19414392, 28523411, 31375000		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	33202356	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	37175345	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	22788932	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	17515960, 22691054, 25026174, 26367730, 30473552, 32167932, 33028238, 34045188, 36456877	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25109342, 26624999	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	24292451, 32801084	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	16425270, 17220334, 19041121, 19242824, 20218899, 22019847, 23143180, 25672588, 27153553, 31413178		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12618330, 15044328, 15333465, 15816625, 16425270, 16982113, 17034901, 17531525, 19124501, 19528510, 19541747, 20354815, 21132382, 21198260, 21429202, 21722819, 21769563, 22329793, 22987024, 23038158, 23065211, 23509821, 23749940, 23781133, 23874853, 24310503, 24523018, 24705777, 24884729, 25156607, 26045303, 31578585, 31584889		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	19032793	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	25492865, 27535970, 28922540, 30214007, 35286386, 36674619	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32056986	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	21198260	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	17974506, 19787261, 24257553, 27553367, 27802207		★☆☆☆☆ Found in Text Mining only
Carcinoma, Pancreatic Ductal	Pancreatic Ductal Carcinoma	BEFREE	25492865		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29292734		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	22306120		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	26884880	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	19631633		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	17630376, 27881569, 28905172		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	17630376		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	18503157, 23871947		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	18503157, 23871947, 31320936		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	28446640, 28882023		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	28501783, 30538199		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	31375000, 31454981		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	31454981	Stimulate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	33946672	Associate	★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	17984110		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	17984110		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	30991413		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30991413		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	28599464		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	27107596		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	28053321, 30562605		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	22076170		★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	20446108		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	LHGDN	17567611		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34966960	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	14679184	Stimulate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	18535621, 18823566, 20720310		★☆☆☆☆ Found in Text Mining only
Colonic Polyps	Colonic polyps	Pubtator	34126796	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16481390, 17991492, 18823566, 20534734, 21037106, 21561390, 23430444, 24254302, 25024628, 25268610, 25344644, 27022219, 28360037, 28386271, 28749454, 29565485, 29664240, 31450087, 31704837		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17949784, 18823566		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18823566, 20534734, 25024628, 25268610, 27022219, 31450087, 32312920, 37652525	Associate	★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	20446108		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	31454981		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21538578, 31375000		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	29292734		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	29292734		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	18989534, 29292734		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	16621887, 19073198		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	28840662, 29212126, 30419597		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	19272208	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	27019630	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	27019630	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	37316538	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28165467, 29088780, 30099457		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	18779313		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	26204393		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	20949644		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	30312344	Associate	★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	LHGDN	11846302		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	11465542, 22271435		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	23776569	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	20391347, 25422360		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	20446108		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	24284961		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	24284961		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	24284961	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	24284961, 24551299	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	20010699		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	29991802, 31308045		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	12161506		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	31036086		★☆☆☆☆ Found in Text Mining only
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	BEFREE	26204393		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	18466396		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	18466396		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	20332233	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	33887608	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	19376732	Associate	★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	20446108		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	11280790		★☆☆☆☆ Found in Text Mining only
Glaucoma Angle Closure	Angle closure glaucoma	Pubtator	28396513	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	24375045	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	26056729		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	20504914, 21429202, 26520369, 27148961, 28852018	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21429202, 26520369, 27148961, 28614736, 28852018, 29036362, 30151353, 30538199, 31719653		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21429202, 26520369, 27148961, 28614736, 28852018, 29036362, 30151353, 30538199, 31719653		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	11705870, 12231548, 19124499		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	19124499, 20679741, 21266972, 21429202, 37086071	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21429202		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	19711438		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	23408843, 25916209, 30076617		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	25916209	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	CTD_human_DG	22262564		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21364753		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	29664240		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	27182645	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	7477378, 9657855		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	17045925		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	30084918		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	17374727		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	18235092, 29292734, 30084918, 31201268		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	14742261, 20540786, 25026297, 27535970, 30214007, 32124937	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	8065332	Stimulate	★☆☆☆☆ Found in Text Mining only
Infertility Female	Female infertility	Pubtator	26790616	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28800425		★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	20446108		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	28380040		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	26204393		★☆☆☆☆ Found in Text Mining only
Keratosis	Keratosis	BEFREE	17374727		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	30084918, 31127150		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	31926579	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	30991413		★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	12161506		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	14521941, 19052983		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	15858043, 28446640, 28626219, 30320340		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	20826193	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	23831574, 31623402		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	31623402		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	28446640		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	28882023		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	30652382		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17515960, 18983843, 22691054, 23418439, 24297337, 25109342, 25976295, 26367730, 26624999, 28598207, 29935355, 30473552, 30719231, 31375000		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17515960		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	25109342		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	22076170		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	26624999	Associate	★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	23967134	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	26624999		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	36674619	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	15816625, 17855454, 18061304, 19124501		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	15816625, 19528510, 21198260, 21429202, 23038158, 23443124, 23509821, 23874853, 23951099, 24884729, 25858321, 26045303, 30991224, 32641008, 34708297, 34824168, 35780128, 35876890, 38028841	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	22688662		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	31494269	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	22205985, 25733810, 37652525	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32801084	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	30877298		★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	29664240		★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	17177211		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	23408843, 25916209, 30076617		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15113441, 15330152, 15878096, 17922186, 18669164, 18701435, 23272074, 23755158, 23994194, 24076439, 24381055, 24414702, 24606430, 24642895, 24893568, 25111287, 25292033, 26257461, 26314200, 28034453, 29720094, 30989461		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	11465542, 22271435		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	24284961		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	25945024, 26292623		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	23967134		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12618330, 15044328, 15333465, 15816625, 16425270, 16982113, 17034901, 17531525, 19124501, 19528510, 19541747, 20354815, 21132382, 21198260, 21429202, 21722819, 21769563, 22329793, 22987024, 23038158, 23065211, 23509821, 23749940, 23781133, 23874853, 24310503, 24523018, 24705777, 24884729, 25156607, 26045303, 31578585, 31584889		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	30652382		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17974506, 19787261, 24257553, 27553367, 27802207		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	16844323, 19188437, 20919954, 23268706, 26081414, 30214007		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16406883, 20852942, 22382185, 25023401, 25234162, 26255264, 27248666, 28467610, 29111564, 29541389		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	16406883, 29541389		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	18466396, 19147860, 20530453, 22205985, 24349526, 25733810, 26373042, 31174925		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21364753		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	11280790		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	16425270, 17220334, 19041121, 19242824, 20218899, 22019847, 23143180, 25672588, 27153553, 31413178		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11465542, 16221808, 18627350, 18715143, 18946634, 19762350, 20056333, 20852942, 21081487, 21113933, 22176746, 22688662, 22713458, 23094050, 23776569, 23834463, 23901781, 23994194, 24297337, 24349526, 24622884, 24830350, 25023401, 25109342, 25243052, 25268610, 25492865, 25945024, 26045303, 26624999, 27050370, 27388124, 27535970, 27655688, 28161249, 28181292, 28839218, 28938675, 28986522, 29393411, 29750271, 30076617, 30170830, 30705092, 30719231, 31150756, 31307523, 31450087, 31493287, 31623402, 31804681, 31828326		★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	BEFREE	11280790		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	18503157, 23871947		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	18535621, 18823566, 20720310		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17922186, 18357393, 18669164		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	25681012	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	28501783, 30538199		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	16373707		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	16373707, 18971960, 19074850, 21266972, 24830350, 26445994	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	16621887, 19073198, 24830350		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	LHGDN	18971960, 19074850		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanosis	Melanosis	BEFREE	17374727		★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular Angina	BEFREE	29080386		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	24892639		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	21865600	Inhibit	★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	12230304		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	17324338, 21030352, 24400589, 30301882, 30607001, 31784427		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	17324338		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	24400589, 30301882	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	31784427	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	30616596		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	25154760, 31623402		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	28599464		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	18712175, 25703835		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	LHGDN	18712175		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	18712175	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocarditis	Myocarditis	BEFREE	29292734		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	27019630	Inhibit	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	24175791, 28464393		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	24175791, 28464393	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11465542, 12161506, 14599768, 14630715, 15330152, 17614107, 17974506, 18042731, 18535621, 19097035, 19188437, 19324449, 19860842, 20087352, 20600828, 21030352, 21081487, 21429202, 23408843, 23776569, 23831574, 24131964, 24329908, 24381055, 24385289, 24972688, 25268610, 25425972, 25492865, 25672588, 25976295, 26192324, 26238022, 26373042, 27655688, 27925687, 28181292, 28523411, 28614736, 28626219, 28852018, 28922540, 28986522, 29064327, 29371032, 29393411, 29880821, 30214007, 30382076, 30653918, 30989461		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	31341530	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	19188437, 28846606, 30170830		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	36674619	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	28882023		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	28882023	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	16195237, 17222938, 19324449, 19860842, 20540786, 21325978, 21420246, 22284908, 22688662, 23038158, 23509821, 23781133, 24729390, 25107571, 25452143, 27074577, 28887667, 29393411, 30109782, 30651789, 31402954, 31578585		★☆☆☆☆ Found in Text Mining only
Ocular albinism, type I	Ocular albinism	BEFREE	7795590		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	24381055		★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	29630930		★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglophonic dwarfism	Pubtator	32124937	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	30289597		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	15210853, 17892509, 20218738, 23581410, 24329908, 26250694, 28775773, 28839218, 30592325, 31564904		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	15210853		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	20218738, 25418192, 28839218, 32627008	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	11465542, 17974506, 19787261, 24257553, 27553367, 27802207		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	17974506		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20087352, 24257553, 27802207, 38143770	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	16844323, 19188437, 20919954, 23268706, 26081414, 30214007		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	28922540		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	15316562		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	15316562, 17230526, 18645011, 22850545, 23094050, 28922540, 30214007	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	20919954	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32438692	Stimulate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	22224629, 27893608, 28460087		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	31382162		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	27608656	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	28610405		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	18671305		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16406883, 20852942, 22382185, 25023401, 25234162, 26255264, 27248666, 28467610, 29111564, 29541389		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	16406883, 29541389		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19101986	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pterygium	Pterygium	BEFREE	20577654		★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	29419339		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	29665309		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21538578		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	31127150		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	30719631		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	24385289		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	11846302		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	33202356	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Pleomorphic Adenoma	Pleomorphic adenoma of salivary gland	BEFREE	28523411		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	11280790		★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	20446108		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	30312344	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	17374727		★☆☆☆☆ Found in Text Mining only
Smith-Lemli-Opitz Syndrome	Smith-Lemli-Opitz Syndrome	BEFREE	21321969		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	15887293		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	15333465, 21198260, 30611690		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24284961		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	17614107, 24622884, 32801084, 33714009, 37887269	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	27372710		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	17614107, 23408843, 24622884		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	27925687		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	18466396, 19147860, 20530453, 22205985, 24349526, 25733810, 26373042, 31174925		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	20332233, 21615620, 22205985, 25733810	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21364753		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	18779313		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	20446108		★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition Of Great Vessels	BEFREE	18989534		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	22713458, 26125438, 29064327, 29880821, 31307523		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26125438, 29064327, 31307523	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	14679184, 22193858		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	17898541, 19414392, 26238022, 27153553	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25672588, 27057081, 27153553	Stimulate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	26238022		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	LHGDN	18503157		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	14742261, 18503157, 32711433, 35485688, 36894994	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	25858321	Inhibit	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	12161506		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	29609002		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	24375045	Associate	★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	20446108		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	23369758, 29199612, 31430071		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	31430071	Associate	★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	23369758, 29199612, 31430071		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	30413344		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	18946634		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum	BEFREE	12618330, 16195237, 22306120, 24619222		★☆☆☆☆ Found in Text Mining only