BAX (BCL2 associated X, apoptosis regulator)

Gene

• Entrez ID: 581
• Gene name: BCL2 associated X, apoptosis regulator
• Gene symbol: BAX
• Synonyms (NCBI Gene): BCL2L4
• Chromosome: 19
• Chromosome location: 19q13.33
• Summary: The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer w

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs398122513	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs398122840	GGGGGGG>-,GGGGGG,GGGGGGGG	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, initiator codon variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016249	hsa-miR-504-5p	qRT-PCR	20542001
MIRT019436	hsa-miR-148b-3p	Microarray	17612493
MIRT023402	hsa-miR-122-5p	Microarray	17612493
MIRT023402	hsa-miR-122-5p	Western blot	18692484
MIRT023989	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT028651	hsa-miR-30a-5p	Proteomics	18668040
MIRT044018	hsa-miR-365a-3p	CLASH	23622248
MIRT437798	hsa-miR-128-3p	Luciferase reporter assay, qRT-PCR, Western blot	23526655
MIRT438317	hsa-miR-298	Luciferase reporter assay, qRT-PCR, Western blot	26064232
MIRT438317	hsa-miR-298	Luciferase reporter assay, qRT-PCR, Western blot	26064232
MIRT044018	hsa-miR-365a-3p	Microarray, Western blot	24216611
MIRT438137	hsa-miR-766-3p	Flow, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24356076
MIRT438124	hsa-miR-214-3p	Luciferase reporter assay	23408966
MIRT438124	hsa-miR-214-3p	Luciferase reporter assay	23408966
MIRT438124	hsa-miR-214-3p	Luciferase reporter assay	23408966
MIRT438124	hsa-miR-214-3p	Luciferase reporter assay	23408966
MIRT438317	hsa-miR-298	Luciferase reporter assay, qRT-PCR, Western blot	26064232
MIRT438317	hsa-miR-298	Luciferase reporter assay, qRT-PCR, Western blot	26064232
MIRT044018	hsa-miR-365a-3p	Microarray, Western blot	24216611
MIRT438137	hsa-miR-766-3p	Flow, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24356076
MIRT438124	hsa-miR-214-3p	Luciferase reporter assay	23408966
MIRT438124	hsa-miR-214-3p	Luciferase reporter assay	23408966
MIRT438124	hsa-miR-214-3p	Luciferase reporter assay	23408966
MIRT438124	hsa-miR-214-3p	Luciferase reporter assay	23408966
MIRT731976	hsa-miR-7-5p	Luciferase reporter assay	27158385
MIRT731976	hsa-miR-7-5p	Luciferase reporter assay	27158385
MIRT731977	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	27610823
MIRT731977	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	27610823
MIRT732758	hsa-miR-125b-5p	Luciferase reporter assay, Western blotting	33859745
MIRT733818	hsa-miR-451b	qRT-PCR, Western blotting	33725258
MIRT734059	hsa-miR-612	qRT-PCR	33564285
MIRT035570	hsa-miR-296-5p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), Immunohistochemistry (IHC), qRT-PCR, Flow cytometry	31433907
MIRT734722	hsa-miR-216a-3p	Luciferase reporter assay, Western blotting, qRT-PCR	34164485
MIRT734925	hsa-miR-145-3p	qRT-PCR	33250681
MIRT023402	hsa-miR-122-5p	Western blotting, qRT-PCR	37771781
MIRT755544	hsa-miR-181c-5p	Western blotting, qRT-PCR	36676955
MIRT755833	hsa-miR-646	Western blotting, qRT-PCR, in vitro cullelar assays, Flow cytometry	37155307
MIRT756192	hsa-miR-223-3p	Western blotting, qRT-PCR	38155264
MIRT756318	hsa-miR-29b-1-5p	Western blotting, Immunofluorescence	38934067
MIRT756378	hsa-miR-139-5p	Western blotting	37794118
MIRT756471	hsa-miR-182-5p	qRT-PCR	38796528
MIRT816098	hsa-miR-128	CLIP-seq
MIRT816099	hsa-miR-1294	CLIP-seq
MIRT816100	hsa-miR-214	CLIP-seq
MIRT816101	hsa-miR-27a	CLIP-seq
MIRT816102	hsa-miR-27b	CLIP-seq
MIRT816103	hsa-miR-3132	CLIP-seq
MIRT816104	hsa-miR-3192	CLIP-seq
MIRT816105	hsa-miR-3619-5p	CLIP-seq
MIRT816106	hsa-miR-3689a-3p	CLIP-seq
MIRT816107	hsa-miR-3689c	CLIP-seq
MIRT816108	hsa-miR-3974	CLIP-seq
MIRT816109	hsa-miR-4291	CLIP-seq
MIRT816110	hsa-miR-4450	CLIP-seq
MIRT816111	hsa-miR-4728-5p	CLIP-seq
MIRT816112	hsa-miR-4761-5p	CLIP-seq
MIRT816113	hsa-miR-542-5p	CLIP-seq
MIRT816114	hsa-miR-761	CLIP-seq
MIRT816115	hsa-miR-922	CLIP-seq
MIRT816116	hsa-miR-1207-3p	CLIP-seq
MIRT816117	hsa-miR-3714	CLIP-seq
MIRT816118	hsa-miR-4488	CLIP-seq
MIRT816119	hsa-miR-455-3p	CLIP-seq
MIRT816120	hsa-miR-4697-5p	CLIP-seq
MIRT816121	hsa-miR-4731-5p	CLIP-seq
MIRT816122	hsa-miR-637	CLIP-seq
MIRT816123	hsa-miR-4286	CLIP-seq
MIRT816124	hsa-miR-4802-5p	CLIP-seq
MIRT2180156	hsa-miR-124	CLIP-seq
MIRT816098	hsa-miR-128	CLIP-seq
MIRT816099	hsa-miR-1294	CLIP-seq
MIRT816100	hsa-miR-214	CLIP-seq
MIRT816101	hsa-miR-27a	CLIP-seq
MIRT816102	hsa-miR-27b	CLIP-seq
MIRT816103	hsa-miR-3132	CLIP-seq
MIRT816104	hsa-miR-3192	CLIP-seq
MIRT816105	hsa-miR-3619-5p	CLIP-seq
MIRT816106	hsa-miR-3689a-3p	CLIP-seq
MIRT816107	hsa-miR-3689c	CLIP-seq
MIRT816108	hsa-miR-3974	CLIP-seq
MIRT816109	hsa-miR-4291	CLIP-seq
MIRT816111	hsa-miR-4728-5p	CLIP-seq
MIRT816112	hsa-miR-4761-5p	CLIP-seq
MIRT2180157	hsa-miR-506	CLIP-seq
MIRT816113	hsa-miR-542-5p	CLIP-seq
MIRT816114	hsa-miR-761	CLIP-seq
MIRT816115	hsa-miR-922	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
AATF	Repression	22909821
ABL1	Activation	11753601
ATM	Activation	16214353
DMAP1	Unknown	24559687
ELL	Repression	15851483
ERCC2	Activation	22387547
ETS1	Repression	17213822
GFI1	Repression	17213822
HIF1A	Activation	15706354
ING1	Activation	15662138;16325212
ING4	Activation	20707719
MLLT10	Repression	15851483
MLLT3	Repression	15851483
MYCN	Activation	19885598
NFKB1	Repression	18158998
NFKB1	Unknown	20056115
NR3C1	Activation	17496926
PAX5	Activation	22105368
PER1	Repression	19675098
PML	Activation	16007146
RELA	Repression	18158998
RELA	Unknown	20056115
SP1	Unknown	11278953
STAT1	Unknown	17346710
TP53	Activation	10101800;10566557;15851483;17280505;17693666;18172861;20673369;22532570;22732402;9000137
TP53	Unknown	10559267;11278953;12851404;15988033;19067706;21859835
TP63	Activation	16007146
TP73	Unknown	19067706
WWTR1	Activation	22470139

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001541	Process	Ovarian follicle development	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0001776	Process	Leukocyte homeostasis	IEA
GO:0001777	Process	T cell homeostatic proliferation	IEA
GO:0001782	Process	B cell homeostasis	IEA
GO:0001783	Process	B cell apoptotic process	IDA	15214043, 16424160
GO:0001783	Process	B cell apoptotic process	IEA
GO:0001822	Process	Kidney development	IEA
GO:0001836	Process	Release of cytochrome c from mitochondria	IBA
GO:0001836	Process	Release of cytochrome c from mitochondria	IDA	9843949, 16199525, 17052454, 25609812
GO:0001836	Process	Release of cytochrome c from mitochondria	IEA
GO:0001836	Process	Release of cytochrome c from mitochondria	IEA
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0002262	Process	Myeloid cell homeostasis	IEA
GO:0002352	Process	B cell negative selection	IEA
GO:0002358	Process	B cell homeostatic proliferation	IEA
GO:0002904	Process	Positive regulation of B cell apoptotic process	IEA
GO:0005515	Function	Protein binding	IPI	9027312, 9111042, 9388232, 9463381, 9843949, 10753914, 11161816, 11278245, 11571294, 11574543, 12732850, 12925958, 14730312, 14752512, 14963330, 15205477, 15901672, 16113678, 16151013, 16439990, 16509771, 16608847, 17123957, 17289999, 17485524, 17525735, 17635912, 18547146, 18818304
GO:0005634	Component	Nucleus	IDA	12925958
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	15102863
GO:0005635	Component	Nuclear envelope	IDA	12925958
GO:0005737	Component	Cytoplasm	IDA	16302269, 29531808
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	11912183, 15102863, 15705586, 16199525, 17823127, 19767770, 25609812
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IBA
GO:0005741	Component	Mitochondrial outer membrane	IDA	29531808
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0005757	Component	Mitochondrial permeability transition pore complex	IDA	9843949
GO:0005783	Component	Endoplasmic reticulum	IDA	16424160
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	16424160
GO:0005829	Component	Cytosol	IDA	11912183, 12925958, 15102863, 15705586, 17823127, 19767770
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006687	Process	Glycosphingolipid metabolic process	IEA
GO:0006808	Process	Regulation of nitrogen utilization	IEA
GO:0006915	Process	Apoptotic process	IDA	9660918, 17428862
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	IMP	9531611
GO:0006915	Process	Apoptotic process	NAS	9920818
GO:0006974	Process	DNA damage response	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007281	Process	Germ cell development	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007548	Process	Sex differentiation	IEA
GO:0008053	Process	Mitochondrial fusion	IBA
GO:0008053	Process	Mitochondrial fusion	IDA	14769861
GO:0008053	Process	Mitochondrial fusion	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008289	Function	Lipid binding	IDA	14522999
GO:0008584	Process	Male gonad development	IEA
GO:0008625	Process	Extrinsic apoptotic signaling pathway via death domain receptors	IC	16199525
GO:0008625	Process	Extrinsic apoptotic signaling pathway via death domain receptors	IEA
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IBA
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IDA	11912183
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IEA
GO:0008637	Process	Apoptotic mitochondrial changes	IDA	9843949
GO:0008637	Process	Apoptotic mitochondrial changes	IEA
GO:0009566	Process	Fertilization	IEA
GO:0009611	Process	Response to wounding	IEA
GO:0009636	Process	Response to toxic substance	IDA	16307838
GO:0009636	Process	Response to toxic substance	IEA
GO:0009651	Process	Response to salt stress	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0010212	Process	Response to ionizing radiation	IEA
GO:0010248	Process	Establishment or maintenance of transmembrane electrochemical gradient	IDA	9843949
GO:0010332	Process	Response to gamma radiation	IEA
GO:0010524	Process	Positive regulation of calcium ion transport into cytosol	IEA
GO:0010917	Process	Negative regulation of mitochondrial membrane potential	IDA	16751333
GO:0015267	Function	Channel activity	IBA
GO:0015267	Function	Channel activity	IDA	9219694
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0021854	Process	Hypothalamus development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0030544	Function	Hsp70 protein binding	IEA
GO:0031334	Process	Positive regulation of protein-containing complex assembly	IDA	9111042, 19805544
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0032091	Process	Negative regulation of protein binding	IDA	9388232
GO:0032469	Process	Endoplasmic reticulum calcium ion homeostasis	TAS	18309324
GO:0032471	Process	Negative regulation of endoplasmic reticulum calcium ion concentration	IEA
GO:0032976	Process	Release of matrix enzymes from mitochondria	IDA	9843949
GO:0033554	Process	Cellular response to stress	IEA
GO:0033599	Process	Regulation of mammary gland epithelial cell proliferation	IEA
GO:0034620	Process	Cellular response to unfolded protein	TAS	22013210
GO:0034644	Process	Cellular response to UV	IEA
GO:0035108	Process	Limb morphogenesis	IEA
GO:0035234	Process	Ectopic germ cell programmed cell death	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	10620504, 14963330, 16113678, 17024184, 17289999, 17668322, 18547146, 18835031, 19062087, 19074440, 19767770, 20360684, 20541605, 20850011, 22198199, 23374347
GO:0042803	Function	Protein homodimerization activity	IDA	16608847
GO:0042981	Process	Regulation of apoptotic process	IDA	25609812
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IDA	16751333, 17464193
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IMP	17289999
GO:0043523	Process	Regulation of neuron apoptotic process	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043525	Process	Positive regulation of neuron apoptotic process	IBA
GO:0043525	Process	Positive regulation of neuron apoptotic process	IDA	15637643
GO:0043525	Process	Positive regulation of neuron apoptotic process	IEA
GO:0043653	Process	Mitochondrial fragmentation involved in apoptotic process	IDA	12499352
GO:0045136	Process	Development of secondary sexual characteristics	IEA
GO:0046666	Process	Retinal cell programmed cell death	IEA
GO:0046930	Component	Pore complex	IDA	9219694
GO:0046982	Function	Protein heterodimerization activity	IPI	9111042
GO:0048087	Process	Positive regulation of developmental pigmentation	IEA
GO:0048147	Process	Negative regulation of fibroblast proliferation	IEA
GO:0048515	Process	Spermatid differentiation	IEA
GO:0048597	Process	Post-embryonic camera-type eye morphogenesis	IEA
GO:0048678	Process	Response to axon injury	IEA
GO:0048872	Process	Homeostasis of number of cells	IEA
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0051087	Function	Protein-folding chaperone binding	IEA
GO:0051094	Process	Positive regulation of developmental process	IEA
GO:0051204	Process	Protein insertion into mitochondrial membrane	IEA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IEA
GO:0051281	Process	Positive regulation of release of sequestered calcium ion into cytosol	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051434	Function	BH3 domain binding	IDA	21199865
GO:0051434	Function	BH3 domain binding	IPI	15705586, 17052454
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0051881	Process	Regulation of mitochondrial membrane potential	IDA	9843949
GO:0060011	Process	Sertoli cell proliferation	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060057	Process	Apoptotic process involved in mammary gland involution	IEA
GO:0060058	Process	Positive regulation of apoptotic process involved in mammary gland involution	IEA
GO:0060068	Process	Vagina development	IEA
GO:0060402	Process	Calcium ion transport into cytosol	IEA
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IEA
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	TAS	22934019
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070242	Process	Thymocyte apoptotic process	IEA
GO:0071944	Component	Cell periphery	IDA	21803450
GO:0072332	Process	Intrinsic apoptotic signaling pathway by p53 class mediator	IEA
GO:0090200	Process	Positive regulation of release of cytochrome c from mitochondria	IDA	14963330
GO:0090200	Process	Positive regulation of release of cytochrome c from mitochondria	IMP	21262771
GO:0097049	Process	Motor neuron apoptotic process	IEA
GO:0097136	Component	Bcl-2 family protein complex	IDA	21199865
GO:0097136	Component	Bcl-2 family protein complex	IEA
GO:0097144	Component	BAX complex	IDA	14522999, 17024184, 19074440, 19767770, 20541605, 20850011
GO:0097144	Component	BAX complex	IEA
GO:0097145	Component	BAK complex	IDA	16113678
GO:0097190	Process	Apoptotic signaling pathway	IDA	16424160
GO:0097190	Process	Apoptotic signaling pathway	IEA
GO:0097191	Process	Extrinsic apoptotic signaling pathway	IDA	15214043
GO:0097192	Process	Extrinsic apoptotic signaling pathway in absence of ligand	IBA
GO:0097192	Process	Extrinsic apoptotic signaling pathway in absence of ligand	IEA
GO:0097193	Process	Intrinsic apoptotic signaling pathway	IDA	9219694, 16462759
GO:0097193	Process	Intrinsic apoptotic signaling pathway	IEA
GO:0097194	Process	Execution phase of apoptosis	IMP	11350920
GO:0097435	Process	Supramolecular fiber organization	IDA	31690630
GO:0098586	Process	Cellular response to virus	IDA	25609812
GO:1902108	Process	Regulation of mitochondrial membrane permeability involved in apoptotic process	IEA
GO:1902110	Process	Positive regulation of mitochondrial membrane permeability involved in apoptotic process	IEA
GO:1902262	Process	Apoptotic process involved in blood vessel morphogenesis	IEA
GO:1902263	Process	Apoptotic process involved in embryonic digit morphogenesis	IEA
GO:1902445	Process	Regulation of mitochondrial membrane permeability involved in programmed necrotic cell death	IEA
GO:1902512	Process	Positive regulation of apoptotic DNA fragmentation	IMP	11350920
GO:1902531	Process	Regulation of intracellular signal transduction	IEA
GO:1903896	Process	Positive regulation of IRE1-mediated unfolded protein response	TAS	22013210
GO:1904019	Process	Epithelial cell apoptotic process	IEA
GO:1904037	Process	Positive regulation of epithelial cell apoptotic process	IEA
GO:1990117	Process	B cell receptor apoptotic signaling pathway	IDA	15214043
GO:2000243	Process	Positive regulation of reproductive process	IEA
GO:2000673	Process	Positive regulation of motor neuron apoptotic process	IEA
GO:2001233	Process	Regulation of apoptotic signaling pathway	IEA
GO:2001234	Process	Negative regulation of apoptotic signaling pathway	IEA
GO:2001244	Process	Positive regulation of intrinsic apoptotic signaling pathway	IEA
GO:2001244	Process	Positive regulation of intrinsic apoptotic signaling pathway	IMP	14963330, 21199865, 21262771

Other IDs

• MIM: 600040
• HGNC: 959
• e!Ensembl: ENSG00000087088

Protein

• UniProt ID: Q07812
• Protein name: Apoptosis regulator BAX (Bcl-2-like protein 4) (Bcl2-L-4)
• Protein function: Plays a role in the mitochondrial apoptotic process (PubMed:10772918, PubMed:11060313, PubMed:16113678, PubMed:16199525, PubMed:18948948, PubMed:21199865, PubMed:21458670, PubMed:25609812, PubMed:36361894, PubMed:8358790, PubMed:8521816). Under
• PDB: 1F16, 2G5B, 2K7W, 2LR1, 3PK1, 3PL7, 4BD2, 4BD6, 4BD7, 4BD8, 4BDU, 4S0O, 4S0P, 4UF2, 4ZIE, 4ZIF, 4ZIG, 4ZIH, 4ZII, 5W5X, 5W5Z, 5W60, 5W61, 6EB6, 6L8V, 6L95, 6TRR, 6XY6, 7ADT, 8G1T, 8SPE, 8SPF, 8SPZ, 8SRX, 8SRY, 8SVK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00452	Bcl-2	63 → 158	Apoptosis regulator proteins, Bcl-2 family	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in a wide variety of tissues. Isoform Psi is found in glial tumors. Isoform Alpha is expressed in spleen, breast, ovary, testis, colon and brain, and at low levels in skin and lung. Isoform Sigma is expressed in spleen, breas
• Sequence:

  MDGSGEQPRGGGPTSSEQIMKTGALLLQGFIQDRAGRMGGEAPELALDPVPQDASTKKLS
  ECLKRIGDELDSNMELQRMIAAVDTDSPREVFFRVAADMFSDGNFNWGRVVALFYFASKL
  VLKALCTKVPELIRTIMGWTLDFLRERLLGWIQDQGGWDGLLSYFGTPTWQTVTIFVAGV
  LTASLTIWKKMG

• Sequence length: 192

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
Carcinoma of colon	Pathogenic	rs398122840	RCV000010120	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
T-cell acute lymphoblastic leukemia	Pathogenic	rs398122513, rs398122840	RCV000010121 RCV000010122	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA TELANGIECTASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL HEMORRHAGE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	ClinVar, HPO ClinVar, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, MALE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTESTINAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, ACUTE LYMPHOBLASTIC	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, ACUTE LYMPHOCYTIC, SUSCEPTIBILITY TO, 1	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acromegaly	Acromegaly	BEFREE	16343104		★☆☆☆☆ Found in Text Mining only
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	18077176		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	9569026		★☆☆☆☆ Found in Text Mining only
Acute Kidney Insufficiency	Acute Kidney Insufficiency	CTD_human_DG	20623750		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	16059649		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	16267031, 30141309, 9531611, 9639521		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	25957891, 28420723, 29559471		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	20164150		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	11992551, 17237283, 9020077, 9331106, 9453486		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	14716828		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	11992551		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29254212		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	9188634		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	9840618		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	11351299, 9453486		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	12737446		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	10544223, 28565805		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	11791174		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	10029807		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	10666234		★☆☆☆☆ Found in Text Mining only
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	30597845	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	19189048, 32794578, 39516502	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	8922409	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	18077176		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	18077176		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	18077176		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	18077176		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	22207432, 25866434	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	Pubtator	19189048	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	23134284, 27815990		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	10536919		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	33586472	Stimulate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	17635522	Stimulate	★☆☆☆☆ Found in Text Mining only
Anemia Refractory	Refractory anemia	Pubtator	11090080	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	35843474	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	17711515		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	16380996	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	22978789	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	19935899, 30905780		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30413028		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	36982526	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	14691302, 23421940, 37506143	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	24920239, 30352835, 32584515, 35904110	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	11866006, 19610265	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	LHGDN	18390829		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	18390829	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	BEFREE	15379893		★☆☆☆☆ Found in Text Mining only
Asymmetric crying face association	Asymmetric crying face association	BEFREE	28934226		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	19898928		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	30413028		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	27141955, 28901395		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	27141955	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	34957910	Stimulate	★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	23805250	Stimulate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	15068859		★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune lymphoproliferative disorder	Pubtator	17218385, 23443079	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	10209486, 17693666, 19289490, 20401760, 21364665, 23134284, 23225437, 23435631, 24117128, 24173654, 24276280, 24511002, 24676391, 24718383, 25109624, 25323004, 25384346, 25405740, 25411978, 25695595, 25738368, 25760096, 25781640, 25937271, 25957891, 26044952, 26081156, 26209050, 26239512, 26398332, 26500281, 26848042, 26936314, 27005762, 27022730, 27221781, 27399772, 27401946, 27484725, 27568302, 27747355, 27803291, 27815990, 27864821, 27878984, 27906186, 27957827, 28101579, 28123499, 28123569, 28123574, 28138714, 28164440, 28241801, 28259939, 28260077, 28260084, 28260107, 28272166, 28352353, 28356001, 28391633, 28396252, 28418864, 28429540, 28447714, 28454103, 28454260, 28454469, 28454472, 28454475, 28467977, 28529565, 28551635, 28554201, 28560462, 28565857, 28586031, 28587346, 28588670, 28588714, 28588729, 28599419, 28599489, 28640008, 28656215, 28656225, 28662337, 28665182, 28672952, 28673004, 28693160, 28693262, 28693266, 28713934, 28714023, 28731139, 28765913, 28765925, 28789432, 28808482, 28837114, 28849044, 28849123, 28860710, 28912852, 28912867, 28916896, 28927092, 28927132, 28927798, 28928812, 28928838, 28943529, 28943902, 28944844, 28944882, 28962108, 28962157, 28962183, 28983595, 29033852, 29039483, 29039526, 29042944, 29042987, 29061796, 29066528, 29075341, 29085442, 29098037, 29104621, 29104666, 29113186, 29113197, 29115425, 29115535, 29115547, 29115607, 29127491, 29132010, 29138553, 29138847, 29138856, 29152647, 29179449, 29180187, 29190957, 29201192, 29201214, 29201227, 29207012, 29207118, 29207147, 29221207, 29223124, 29232945, 29243778, 29247598, 29257202, 29257269, 29257273, 29257340, 29260360, 29272021, 29275301, 29285056, 29285102, 29285137, 29285175, 29285195, 29286113, 29286130, 29316020, 29328385, 29328448, 29336479, 29344237, 29351194, 29355544, 29360780, 29363719, 29363726, 29375685, 29389945, 29393352, 29393425, 29393473, 29399062, 29399071, 29399101, 29434685, 29434733, 29434920, 29434978, 29435054, 29436613, 29436666, 29456710, 29484409, 29485914, 29488156, 29488615, 29501042, 29545835, 29545840, 29545863, 29552161, 29552219, 29576796, 29599842, 29635023, 29655853, 29693126, 29693156, 29693708, 29710456, 29716528, 29725398, 29725405, 29725453, 29729707, 29731824, 29731847, 29731848, 29734677, 29738772, 29749492, 29749523, 29750299, 29762232, 29767257, 29771436, 29774101, 29786746, 29786748, 29792955, 29794468, 29805515, 29805523, 29805536, 29805557, 29805582, 29805606, 29805614, 29805670, 29845245, 29867551, 29896271, 29901098, 29916538, 29921821, 29923216, 29925224, 29928358, 29928398, 29932870, 29956761, 29956784, 29956797, 29964132, 30013646, 30013647, 30015916, 30024624, 30029514, 30049438, 30055129, 30061179, 30066940, 30066948, 30068867, 30106110, 30106126, 30106144, 30116377, 30127597, 30127880, 30127911, 30127912, 30127920, 30127928, 30132572, 30158833, 30175514, 30178850, 30186407, 30186438, 30186462, 30196309, 30197667, 30197679, 30202421, 30210588, 30211660, 30214619, 30221690, 30233696, 30250550, 30272252, 30272262, 30283340, 30320380, 30335886, 30339249, 30343310, 30344696, 30344709, 30344756, 30365070, 30370578, 30381663, 30396948, 30412733, 30414993, 30426692, 30429414, 30430645, 30431108, 30446882, 30450837, 30463061, 30472432, 30536340, 30537571, 30546398, 30546444, 30569096, 30569126, 30575939, 30578377, 30595182, 30599248, 30651766, 30651849, 30655755, 30655812, 30655858, 30655881, 30657568, 30664150, 30664155, 30664159, 30673960, 30675228, 30675232, 30675258, 30699432, 30711173, 30711951, 30733666, 30735101, 30738023, 30747218, 30772517, 30780111, 30783435, 30783438, 30783451, 30783466, 30798134, 30816462, 30816511, 30832267, 30845773, 30854075, 30864677, 30864709, 30896788, 30917711, 30927660, 30939721, 30942456, 30986204, 30988756, 31002169, 31042421, 31054488, 31071336, 31077207, 31111379, 31114978, 31114980, 31115021, 31115027, 31115494, 31115574, 31115576, 31115580, 31120770, 31161729, 31173173, 31180556, 31181779, 31186742, 31212291, 31222746, 31262895, 31289512, 31298402, 31323016, 31351435, 31361973, 31364183, 31378908, 31378910, 31383785, 31387192, 31389568, 31389586, 31389591, 31389609, 31400930, 31410148, 31410172, 31411368, 31417030, 31427081, 31441362, 31485613, 31486508, 31504911, 31553997, 31568849, 31590241, 31599399, 31605603, 31609809, 31640181, 31642818, 31664016, 31717470, 31733641, 31736438, 31768871, 31782491, 31789417, 31799679, 31799680, 31810928, 31841208, 31841897		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	12749011, 16472763, 18925695		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	12481899, 12890741, 19789217, 8649796, 8943893, 9328155		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	BEFREE	19719835		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	28943529		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	14606101	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	14606101	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	19945534, 29463875	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	10379742		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	12389125		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	12406906		★☆☆☆☆ Found in Text Mining only
Brain Injuries Diffuse	Brain injuries	Pubtator	9327733	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	23666460	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	10933058	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	17509221		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	27441372, 7671262		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10481938, 10918191, 11261833, 11469882, 16552754, 16874058, 17288732, 20190683, 23071787, 24276280, 24672785, 25323004, 26716512, 27331203, 27390258, 27769050, 28396252, 28599457, 31583572, 31605603, 31698596, 8959327		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	22572619		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10998426, 11025483, 11852106, 12210599, 12743423, 15310398, 17121430, 19035283, 19242108, 20164027, 21377101, 21861179, 22126498, 23098483, 23222814, 23908591, 24377598, 24672785, 24896091, 25169499, 25190016, 25374178, 25857724, 26503209, 26823806, 30873742, 30876462, 31424657, 31578772, 31605603, 32634469, 32649310, 33369440, 33369470, 33495824, 34221232, 34452574, 34470980, 34587475, 36284943, 36382444, 36531115, 36765397, 37049702, 37068562, 37294601, 38019251, 38051378, 40091012, 8777167, 9743306, 9815673	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	20829044, 39732179	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	34360714	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	10612806, 9583678		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	LHGDN	11869962, 12070030		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Cancer of Urinary Tract	Urinary Tract Cancer	BEFREE	9673385		★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	16827116	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	10934138, 17694953, 18240345, 19118032, 19820113, 24122668, 9849580	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	30941978, 8952529	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10027334, 10918191, 11261833, 11351299, 12049310, 15911244, 16288216, 9453486		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	19683979	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	11173657	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	11173657	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	12439925, 15052673, 15962362, 17695528, 17997990, 18023099, 19360919, 22928777, 23443079, 24223706, 24287949, 24708487, 25261655, 25855960, 26044564, 26718026, 27043783, 27699664, 28655132, 29689279, 31128017, 31570105, 33602168, 33642822, 33902004, 34361745, 35127170, 35572840	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	11173657, 18837981	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	8952529	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	10379742		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10226602, 11848534, 12365003, 14598185, 24324070, 24521149, 28454469, 29290491		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	11720475	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	24423239, 29409480	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	15941683, 19609102, 27834342, 28154184, 31081053, 31259714, 32009115	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	19563663	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	10933063, 11932899, 17694953, 28556798, 32188965, 9662258	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	12592374	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	10193941, 11298546, 19719835		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	10232598, 11720475, 12365003, 12644821, 16204010, 26209050, 9600357, 9704707		★☆☆☆☆ Found in Text Mining only
Cardiac Tamponade	Cardiac tamponade	Pubtator	26956740	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	12907417	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	10841223	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	16405608	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	29209126		★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy Familial	Cerebral amyloid angiopathy	Pubtator	19189048	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	30822224		★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral Microangiopathy	BEFREE	29257241		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	11571575		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	26272263		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	11571575, 31427081		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10194447, 25982455, 30016275		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	10029807		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	LHGDN	15484294		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	15484294, 17067385, 22429346, 30880771, 35307646, 35790790	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	22429346		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	20127255, 28522217	Associate	★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	18556456	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	21262580	Stimulate	★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	30968846		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12359369, 12481899, 12890741, 15688029, 15735127, 16307023, 16983347, 17200714, 17981213, 19320642, 19789217, 24117128, 27488117, 27866977, 28213497, 29031050, 29552052, 30135489, 30556269, 30601084, 31650140, 8649796, 8943893, 9328155		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	LHGDN	12359369, 17118768		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31219199		★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	21418516	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	33447019	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	10896914, 31159239	Inhibit	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	15292938, 32022398, 35185383	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10337989, 12215894, 17426704, 18430410, 18464289, 19221769, 30402948, 31426331, 9639521		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	11032947, 9020077, 9331106		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	LHGDN	14612938, 15262986, 16215676, 17426704		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic neoplasm	Pubtator	15955446	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	17404573		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic neoplasm	Pubtator	31432981	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10321738, 10334520, 10544223, 11912124, 11992551, 12244568, 12700659, 15088110, 15676142, 16421660, 16485142, 17332927, 19787250, 20565851, 21949851, 23700226, 24122668, 25599959, 25695595, 25800793, 27220399, 28035578, 28586030, 28912868, 29374142, 31298323, 31726940, 9453486, 9500210, 9563904, 9788444, 9849580		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10193519, 10641488, 11123425, 11514566, 11896073, 12057899, 12670866, 15770735, 15955446, 16608847, 17278192, 17373735, 17426704, 18430410, 19177010, 20565851, 21078664, 21403907, 21524287, 21949851, 23700428, 23893182, 24122668, 24574804, 24720439, 24842234, 24970817, 25864810, 27151692, 28035578, 28049506, 28075415, 28803443, 29374142, 30361551, 30468657, 30557404, 30942397, 31298323, 32000660, 32277680, 32495637, 32669835, 32685496, 33076720, 33277833, 33652694, 34512817, 35462114, 36013602, 36030982, 37373155, 37530327, 38091318, 39515665, 40075273, 9777938, 9792140	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	10337989, 15676142		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	11912124, 15770735, 17404017, 17562177		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32022398	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	9777938, 9849580	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	30464201	Associate	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	26313366, 29794468		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28831296, 30968846		★☆☆☆☆ Found in Text Mining only
Continuous Muscle Fiber Activity Hereditary	Hereditary continuous muscle fiber activity	Pubtator	11570908	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	10022999, 28551630		★☆☆☆☆ Found in Text Mining only
Corneal dystrophy Avellino type	Corneal dystrophy	Pubtator	19497990	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	29399062, 30968846		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	29399062, 30968846		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	30681575	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	29399062, 30681575, 30968846		★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	29847820	Stimulate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	30068867		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	11413108	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	31159239	Stimulate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	31711746		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	28050764		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	26081683, 30144066, 30430645		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	LHGDN	16186627		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	11714446	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31160908		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	11091268	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Herpetiformis	Dermatitis herpetiformis	Pubtator	16388717	Stimulate	★☆☆☆☆ Found in Text Mining only
Deuteranomaly	Deuteranomaly	BEFREE	31718076		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	15068859, 27897090		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	10702418, 18019411, 20200776, 26782377, 34512554	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15068859, 27897090, 29427460, 9576088		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	31811564	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	20200776, 30598071	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	24030399, 30593206	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23337395, 27873077, 30598071, 31411368		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	15068859		★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	34293021	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	31599399		★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	16254104	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	19325208	Stimulate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	27494852		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	11417611		★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	22014978		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	11585417, 11753956, 12057899, 12217750, 12700659, 19787250, 19846939, 9840618, 9849574		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	9849574	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	12237915	Inhibit	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	15471875, 19846939, 21888833, 29560769, 30628640, 40243844, 9849574	Associate	★☆☆☆☆ Found in Text Mining only
Endometrioid carcinoma ovary	Ovarian endometrioid carcinoma	BEFREE	14559989		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	11020520, 16150151, 24127964, 33817715, 34746304	Associate	★☆☆☆☆ Found in Text Mining only
Enterocolitis Necrotizing	Enterocolitis	Pubtator	27164337, 29276042	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	22152093	Stimulate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	15057301	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	11720475, 26209050, 9704707		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	10918191, 12067977		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	25816175		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	12632486, 27863415, 29136005, 32360515, 32426838	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	17634542		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophagus Neoplasm	CTD_human_DG	17634542		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	25816175		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	22477709, 24474449, 32071920, 35601150, 36474162	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	24474449	Inhibit	★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	18077176		★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	32901872	Stimulate	★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	31336611	Stimulate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	31029786		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	31029786		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	17036395, 25400762	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28446627		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	30287501		★☆☆☆☆ Found in Text Mining only
Fibrillary Astrocytoma	Fibrillary Astrocytoma	BEFREE	11820596		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	11867266, 21498692		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	LHGDN	11867266		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	26555271		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	29137483, 30389788		★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	31029786		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	32727073	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	29513793, 34118139	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	11929811		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	16830365	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	28064040		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	10628370, 12019170, 15706354, 15913396, 17509221, 18663354, 24706805, 27461656, 30446901, 30834619		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	17509221, 18814044		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	18260157, 27932423, 30562758, 31870319, 34784707, 36235203, 36838582, 38016363, 9826721	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	30446901	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	10628370, 12019170, 15706354, 15913396, 17509221, 18663354, 24706805, 27461656, 30446901, 30834619		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	10337989, 10470825, 12625753, 14973547, 19289490, 20383466, 29991800, 31810928, 8640722		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	10744043, 16319070, 18445700, 19208740, 19289490, 21122152, 21364627, 21364665, 22393246, 22895663, 23684856, 25532840, 25556484, 26339341, 26743778, 28032310, 29164574, 29866060, 30296359, 30446901, 32851798, 34268963, 36325335, 36647967, 36795994, 37918583, 9060818, 9472635	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30225541	Inhibit	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	26460503, 29137483	Inhibit	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	29137483	Inhibit	★☆☆☆☆ Found in Text Mining only
Granulomatous Disease, Chronic, X-Linked	Granulomatous Disease	BEFREE	14688376		★☆☆☆☆ Found in Text Mining only
Granulomatous Slack Skin	Granulomatous Slack Skin	CTD_human_DG	12754746		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	LHGDN	15351796		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	19008632	Associate	★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	39619202	Inhibit	★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	27803291		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	23479508		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	23479508	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	25961010, 38241555	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28831296		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	30968846	Stimulate	★☆☆☆☆ Found in Text Mining only
Hemangioblastoma	Hemangioblastoma	BEFREE	28094316		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	29767244		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	30464201	Stimulate	★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	14633779, 9531611		★☆☆☆☆ Found in Text Mining only
Hepatitis Chronic	Hepatitis	Pubtator	15457575	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	8760302		★☆☆☆☆ Found in Text Mining only
Hepatomegaly	Hepatomegaly	Pubtator	17364991	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	16421660, 9453486, 9797779		★☆☆☆☆ Found in Text Mining only
Hereditary nonpolyposis colorectal carcinoma	Hereditary nonpolyposis colorectal cancer	BEFREE	9849580		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	12215842		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	10612806, 10809363		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	LHGDN	11839668, 16949642		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	8630413	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	11553921		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	30058243		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	9576088		★☆☆☆☆ Found in Text Mining only
Hyperoxia	Hyperoxia	Pubtator	21128858	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	Pubtator	10652020, 15188026	Associate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	14767488, 15188026	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	19895710, 28596595, 33973418, 9576088	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	11139485	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29399101, 9576088		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	10933058, 20164027, 30876462, 34435647	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	14961987, 22815878, 30739528, 32271447, 33174051, 38285930	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	24008660, 30949212	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	15917407	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	18635891, 20451601	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	26056927	Stimulate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	31159239	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	16951220		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	27593829, 33413477, 38041088	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	33090383	Stimulate	★☆☆☆☆ Found in Text Mining only
Intestinal Cancer	Intestinal Cancer	CTD_human_DG	12663524		★☆☆☆☆ Found in Text Mining only
Intestinal Cancer	Intestinal Cancer	BEFREE	21184732		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	16270406	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	CTD_human_DG	12663524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	15655830	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	17067385, 29434920		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	31236816		★☆☆☆☆ Found in Text Mining only
Kashin-Beck Disease	Kashin-Beck Disease	BEFREE	29948913		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	11485911		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	CTD_human_DG	20623750		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Acute	Kidney Failure	BEFREE	31665638		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Neoplasms	Kidney neoplasm	Pubtator	31424686	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	15928664, 34268937, 35756421	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	27129795, 31104007		★☆☆☆☆ Found in Text Mining only
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	BEFREE	31180556		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	28483502	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	10437917, 16538501, 18059532		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	11840289, 28599419, 30601084, 31046873, 9583678		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11877295, 17364991, 19773546, 20401760, 21818379, 25867342, 32862612	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	30934922	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia Hairy Cell	Hairy cell leukemia	Pubtator	8686741	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	15642706	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	18160664, 19463775, 23996484, 24620954, 25957891, 26801919, 37078709, 38085150, 39570105, 8916965	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	20164150, 36098742	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	14628086, 16059649, 16281935, 23955073, 24620954, 25957891, 28420723, 29017053, 29017059, 29332353, 29559471, 31801941		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	10666234		★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	12953781		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10585263, 12244568, 25855960, 26044564, 26861461, 28472789, 29749500, 30301500, 31605713		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	12439925, 15962362		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	28876364	Inhibit	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	12244568		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	35562678	Associate	★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	30628647	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	30941978	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	15917407	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	10063313, 11123426, 12161185, 16679323, 17091766, 22393947, 24728004, 26134408, 26491047, 30078010, 32069989, 36128561, 37984526, 38554387	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	15642728, 16410245, 17091766, 18772168		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Discoid	Discoid lupus erythematosus	Pubtator	26261624	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	11905854, 26617807	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	18507053	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	9822266	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	27909160		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	11905854		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	11905854	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	17242701, 17477770, 20430737	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	30546444		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10697273, 11261833, 12070030, 29552052, 30601084, 9705131		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	9376600	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	12210808, 14767488, 37824846	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	17295647		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	24024471, 9454770		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	24024471		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	12754746		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	CTD_human_DG	12754746		★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	21092747		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Malformation of cortical development	LHGDN	18594472		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	17509221		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	23479508		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	21746927		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10481938, 10918191, 11261833, 16552754, 16874058, 17288732, 19035283, 20190683, 23071787, 24276280, 24672785, 25323004, 26716512, 27331203, 27390258, 27769050, 28599457, 28943902, 31583572, 31605603, 31698596		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	22572619		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	11585417, 12700659, 19787250		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	CTD_human_DG	17634542		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	25816175, 30546444		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	10232581, 9331106		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	27129795		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	11571575, 31289468		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10190568, 10226602, 11848534, 12365003, 12730679, 14598185, 24324070, 24521149, 28454469, 29290491		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	10232598, 11720475, 12365003, 12644821, 16204010, 9600357		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	11032947, 25997867		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11019784, 11571575, 17062688, 17555985, 25177836, 28731173, 30197674		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17542986		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	10880019, 10984511, 15016751, 25267570, 30775800, 9563904		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	10379742		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10232598, 10628370, 10680019, 11062132, 11813905, 12161185, 12625753, 12661003, 14633328, 15298965, 15583826, 18338751, 22275115, 23700226, 24147019, 24521149, 25860620, 26008974, 26694352, 26861461, 28036386, 28368610, 28676391, 29017053, 29332353, 29436666, 30024563, 30578377, 30747218, 31427081, 31474154, 31490001, 9531611, 9583678		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	11571575		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	12215894, 12378532, 17426704, 18430410, 18464289, 19221769, 21855041, 21949851, 30402948, 31426331, 9020077, 9639521		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	17404573		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	21818634	Associate	★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	22572619		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	11852106, 14647416, 17666167, 18006836, 19031258		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	22572619		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23577147, 29986606		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	22572619		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	21746927		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	15088110		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	10029807		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	9060818, 9826721	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	11511312, 11676832, 16528364, 16702969, 17086378, 17263886, 20357812, 22277029, 22685558, 23348591, 23527236, 25735374, 32054850, 33558564, 36674631	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	15743033, 18563851		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	18563851, 28050764, 30599074		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	33202207	Inhibit	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	38166464	Stimulate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	26240495	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31160908		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	19125733		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	LHGDN	19125733		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	12606823		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	12606823, 28602541, 31670317	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	12063468, 12606823	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	23298496	Stimulate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	27864821		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	26031240		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	11751859, 12644018, 16778220, 28441753	Stimulate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	12153473, 15175350, 17218385, 18331646, 18375382, 18566329, 19331169, 20393480, 20404718, 22429346, 22761775, 23108666, 23254292, 23900080, 24602180, 24920239, 25040975, 25879420, 26125273, 26503209, 27223122, 27677322, 28154184, 29424907, 30374881, 30942428, 31443721, 31541852, 32690085, 33929971, 37055388, 37371550, 37410216, 38272357, 39206910	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	29516570, 35447090	Inhibit	★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	12172574, 24127964, 34762658	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	12172574, 23324604, 29332355	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	11703382	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	37506144	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	19362737, 21565982, 32173687, 38096363, 9163609	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	26249174, 28506771		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	21752397		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	28008595	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	20476668	Stimulate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	17354625	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	11090080, 15755901, 26398525, 27665715, 9886323	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	12406906, 18979557		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	LHGDN	18979557		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	11585417, 31378910, 31486508, 9563904, 9840618		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	CTD_human_DG	20079142, 25450231		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial ischemia	Pubtator	10841223	Stimulate	★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	11570908	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	31811564	Inhibit	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	19636580		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	23777485, 24961145, 25227792, 25337187, 29991129, 34224316, 38009194	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	26239171		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	11414470	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	17635522	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10213220, 10232598, 10321738, 10334520, 10398102, 10469448, 10544223, 10646876, 10719374, 10757443, 10809363, 10820351, 10918391, 10959092, 10984511, 11261833, 11304781, 11351299, 11439366, 11469882, 11485911, 11585417, 11819821, 11820596, 11843312, 11850720, 11852336, 11912124, 11912183, 11992551, 12101414, 12124347, 12365003, 12478659, 14514923, 14522894, 15073856, 15088110, 15647110, 15676142, 15706354, 16000066, 16010555, 16353209, 16485142, 16737913, 17288732, 17342313, 17426704, 17530287, 17535549, 18260157, 18563851, 18714167, 19789217, 19846939, 21949851, 22275115, 22313995, 23019217, 23166610, 24073264, 24122668, 24185264, 24706805, 26008974, 27129294, 27693317, 28586030, 29017059, 29121869, 29472583, 29901097, 30076862, 30391783, 30478310, 30775800, 31222746, 8640722, 9020077, 9331106, 9500210, 9531611, 9563904, 9583678, 9600357, 9674699, 9704707, 9788444, 9797779, 9840618		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	17603632, 21847364, 23161404, 23223795, 27488115, 31362335, 9099968	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	17912039, 25644037		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	27630059, 32794578, 33558564	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	17171827		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	LHGDN	14631373		★☆☆☆☆ Found in Text Mining only
Nevus comedonicus	Nevus comedonicus	BEFREE	27485415		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30411754		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	10226602, 11843312, 11848534, 12730679, 12811820, 15002033, 17535549, 24324070, 26656462, 29725453, 30218747, 30747218, 31708104, 8630278, 9808530		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24073224	Inhibit	★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	28382091		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	23421940	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	30993110	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglophonic dwarfism	Pubtator	31251836, 35609324, 36372373	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	BEFREE	17438390		★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	LHGDN	17438390		★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	Pubtator	17438390	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	30342851		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	10641488, 18223689, 24570183, 24961347, 25677904, 26569226, 30747353, 31337976, 31433581, 32922188, 33097010, 33378012, 33960434, 35758024	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	16010425, 17342313, 30723510, 31263675		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	16010425, 18223689		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	33797312	Inhibit	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	25510701	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	11455387		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	10232598, 11720475, 12365003, 12644821, 16204010, 9600357		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	10679744, 11720475, 12644821, 18657225, 22052903, 22995373, 23345014, 25095978, 26514477, 28326515, 28440479, 28731164, 29987135, 31424650, 31983100, 32187278, 32752091, 33941323, 38003498	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	12036450	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36849137	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25997867		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	12189556		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	11694525, 15884114, 21720559, 21931488, 22119988, 23954445, 25880226, 30400136, 31799654, 31856624, 9863489	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	11889077	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	28901486		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	12067490	Associate	★☆☆☆☆ Found in Text Mining only
Paramyotonia Congenita (disorder)	Paramyotonia Congenita	BEFREE	22076676		★☆☆☆☆ Found in Text Mining only
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	BEFREE	22198862		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	22198862	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	11031081, 32794578	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	12666099, 28494419		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	21674599, 29230415	Associate	★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	24614958		★☆☆☆☆ Found in Text Mining only
Pemphigoid Bullous	Bullous pemphigoid	Pubtator	16388717	Stimulate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	30593206	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	10079254	Inhibit	★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	LHGDN	14971737		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	23334699	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	21062263		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	26868993, 33287836	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	30592281, 35393909	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	35288480	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	9856409		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	31227645		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	16267031, 30141309, 9531611, 9639521		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	10739008		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	11455387		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	18077176		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	22300941		★☆☆☆☆ Found in Text Mining only
Prion Diseases	Prion disease	Pubtator	19680558	Associate	★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	25991504		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11571575, 17062688, 17555985, 25177836, 30197674		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic Hyperplasia	LHGDN	15314639		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	16309180, 16827116, 37378942	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	32341393	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	10725400, 10952781, 12170776, 16479009, 16794010, 16814949, 16880611, 17513609, 17575222, 18668529, 19037992, 19275204, 22484941, 23887632, 23907458, 26604689, 27187384, 28737827, 29351194, 30198376, 31196962, 31332950, 32258129, 32341393, 32894540, 34791506, 37378942, 8623925	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	11839683, 16479009		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17542986		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25578495	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	27864821		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	38162988	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	10022999, 12017273, 9673385		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	12025227		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	22125429	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	12823982, 30694025		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	30694025, 36284668	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	17896786	Associate	★☆☆☆☆ Found in Text Mining only
Rhegmatogenous retinal detachment	Rhegmatogenous retinal detachment	BEFREE	25991504, 28877516		★☆☆☆☆ Found in Text Mining only
Rhegmatogenous Retinal Detachment Autosomal Dominant	Rhegmatogenous retinal detachment	Pubtator	25991504	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10366100		★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	15361203	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Adenoma Pleomorphic	Salivary gland disease	Pubtator	33737504	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	BEFREE	22313995		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	22313995	Associate	★☆☆☆☆ Found in Text Mining only
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	21062263		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	11304781		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	LHGDN	12583439		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28013315, 28404559, 31115021		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	12472667, 9844061	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	12754746		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	32221272	Stimulate	★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	15138206, 26093086	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	26008974, 8630278		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	17091766, 20807285, 26008974, 8630278	Associate	★☆☆☆☆ Found in Text Mining only
Splenomegaly	Splenomegaly	Pubtator	17364991	Stimulate	★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	29960293	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	10193941, 10446454, 11304781, 11813905, 16454809, 22852863, 30599074		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	11949842, 12270344, 14719078, 17693666		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	11304781, 16866858, 28123574, 30546444		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	16254104, 22852863, 24716969, 25906090, 31894587, 35717615, 39519400, 40302074	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	31676831		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	10690558		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	29246940		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28436075		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	10880019, 10984511, 15016751, 25267570, 30775800		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	16270406, 20065505	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	10027334, 11714446, 11819821, 12679905, 14716828, 15188515, 16340247, 17477770, 18240345, 22090785, 22238053, 22320960, 23564482, 23792648, 23969976, 24377536, 24805829, 25516654, 25561801, 26645893, 28347236, 29960296, 30013101, 30066897, 30106448, 31940247, 36195596, 40076652, 40603395, 9020481	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18074738, 19101510		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	10688097		★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	11745252		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	9041117	Associate	★☆☆☆☆ Found in Text Mining only
Thanatophoric Dysplasia	Thanatophoric dysplasia	Pubtator	9582336	Stimulate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	15271793, 22300941	Inhibit	★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	22418850	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	22300941, 22418850		★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	BEFREE	29784641		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	28057912		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	19683979, 24081676, 31378899, 31591432, 34825595	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	11351299		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	21571321	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	31417030		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	11351299		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	18021179, 35968508	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	19008632	Associate	★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	28983595, 35720042	Associate	★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	28893572		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26028030, 29374168		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31870109, 34970732, 35056723, 37822991, 39183056	Associate	★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	10861262, 25816162	Associate	★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	15088110, 9777938		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	10896914		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	26198047, 26743236, 30443191, 34790817, 34861846, 38072891	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	14633328		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	15563666	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	12562647, 15361203, 15889622, 16619552, 17324262, 19064947, 23803076, 24815470, 25142231, 29806603, 31180057, 31935210, 31983099, 32718121, 35166172, 36508388, 36629320, 37606138, 39707317, 9808425	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	17242701	Inhibit	★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	21804459	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	11867266, 21498692, 25851703		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	24014050		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	24014050	Associate	★☆☆☆☆ Found in Text Mining only
Varicocele	Varicocele	BEFREE	25168538, 29978951		★☆☆☆☆ Found in Text Mining only
Varicose Veins	Varicose veins	Pubtator	15531194	Associate	★☆☆☆☆ Found in Text Mining only
Venous Insufficiency	Venous insufficiency	Pubtator	29626597	Stimulate	★☆☆☆☆ Found in Text Mining only
Vesicular Stomatitis	Vesicular Stomatitis	BEFREE	21521785		★☆☆☆☆ Found in Text Mining only
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	25991504	Associate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	25893290	Associate	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	11720445	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	19719835		★☆☆☆☆ Found in Text Mining only