RELA (RELA proto-oncogene, NF-kB subunit)

Gene

• Entrez ID: 5970
• Gene name: RELA proto-oncogene, NF-kB subunit
• Gene symbol: RELA
• Synonyms (NCBI Gene): AIF3BL3, CMCU, NFKB3, p65
• Chromosome: 11
• Chromosome location: 11q13.1
• Summary: NF-kappa-B is a ubiquitous transcription factor involved in several biological processes. It is held in the cytoplasm in an inactive state by specific inhibitors. Upon degradation of the inhibitor, NF-kappa-B moves to the nucleus and activates transcripti

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1565191003	C>T	Pathogenic	Splice donor variant
rs1590931704	T>G	Likely-pathogenic	Splice acceptor variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002616	hsa-miR-124-3p	Luciferase reporter assay, Microarray	15685193
MIRT002531	hsa-miR-373-3p	Microarray	15685193
MIRT002531	hsa-miR-373-3p	Microarray;Other	15685193
MIRT002616	hsa-miR-124-3p	Microarray;Other	15685193
MIRT025722	hsa-miR-7-5p	Sequencing	20371350
MIRT025722	hsa-miR-7-5p	Microarray	17612493
MIRT025722	hsa-miR-7-5p	Microarray	19073608
MIRT027888	hsa-miR-96-5p	Sequencing	20371350
MIRT044799	hsa-miR-320a	CLASH	23622248
MIRT044799	hsa-miR-320a	CLASH	23622248
MIRT044156	hsa-miR-30e-5p	CLASH	23622248
MIRT043112	hsa-miR-324-5p	CLASH	23622248
MIRT025722	hsa-miR-7-5p	qRT-PCR, Western blot	25232110
MIRT025722	hsa-miR-7-5p	qRT-PCR, Western blot	25232110
MIRT025722	hsa-miR-7-5p	qRT-PCR, Western blot	25232110
MIRT025722	hsa-miR-7-5p	qRT-PCR, Western blot	25232110
MIRT642962	hsa-miR-3125	HITS-CLIP	23824327
MIRT642961	hsa-miR-3916	HITS-CLIP	23824327
MIRT642960	hsa-miR-6859-5p	HITS-CLIP	23824327
MIRT642959	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT383563	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT642958	hsa-miR-877-5p	HITS-CLIP	23824327
MIRT642956	hsa-miR-6866-5p	HITS-CLIP	23824327
MIRT642957	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT642955	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT642954	hsa-miR-1303	HITS-CLIP	23824327
MIRT642962	hsa-miR-3125	HITS-CLIP	23824327
MIRT642961	hsa-miR-3916	HITS-CLIP	23824327
MIRT642960	hsa-miR-6859-5p	HITS-CLIP	23824327
MIRT642959	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT383563	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT642958	hsa-miR-877-5p	HITS-CLIP	23824327
MIRT642956	hsa-miR-6866-5p	HITS-CLIP	23824327
MIRT642957	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT642955	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT642954	hsa-miR-1303	HITS-CLIP	23824327
MIRT559980	hsa-miR-4534	PAR-CLIP	20371350
MIRT559979	hsa-miR-8082	PAR-CLIP	20371350
MIRT559978	hsa-miR-3134	PAR-CLIP	20371350
MIRT025722	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT559977	hsa-miR-6077	PAR-CLIP	20371350
MIRT559975	hsa-miR-3161	PAR-CLIP	20371350
MIRT559976	hsa-miR-599	PAR-CLIP	20371350
MIRT559974	hsa-miR-1261	PAR-CLIP	20371350
MIRT559980	hsa-miR-4534	PAR-CLIP	20371350
MIRT559979	hsa-miR-8082	PAR-CLIP	20371350
MIRT559978	hsa-miR-3134	PAR-CLIP	20371350
MIRT025722	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT559977	hsa-miR-6077	PAR-CLIP	20371350
MIRT559975	hsa-miR-3161	PAR-CLIP	20371350
MIRT559976	hsa-miR-599	PAR-CLIP	20371350
MIRT559974	hsa-miR-1261	PAR-CLIP	20371350
MIRT025722	hsa-miR-7-5p	ChIP-seq, Immunofluorescence, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	26261179
MIRT025722	hsa-miR-7-5p	ChIP-seq, Immunofluorescence, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	26261179
MIRT025722	hsa-miR-7-5p	ChIP-seq, Immunofluorescence, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	26261179
MIRT025722	hsa-miR-7-5p	ChIP-seq, Immunofluorescence, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	26261179
MIRT025722	hsa-miR-7-5p	qRT-PCR, Western blot	25814668
MIRT737051	hsa-miR-375	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR	31802830
MIRT737051	hsa-miR-375	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR	31802830
MIRT737051	hsa-miR-375	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR	31802830
MIRT642962	hsa-miR-3125	HITS-CLIP	23824327
MIRT642961	hsa-miR-3916	HITS-CLIP	23824327
MIRT642960	hsa-miR-6859-5p	HITS-CLIP	23824327
MIRT642959	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT383563	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT642958	hsa-miR-877-5p	HITS-CLIP	23824327
MIRT642956	hsa-miR-6866-5p	HITS-CLIP	23824327
MIRT642957	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT642955	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT642954	hsa-miR-1303	HITS-CLIP	23824327
MIRT642962	hsa-miR-3125	HITS-CLIP	23824327
MIRT642961	hsa-miR-3916	HITS-CLIP	23824327
MIRT642960	hsa-miR-6859-5p	HITS-CLIP	23824327
MIRT642959	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT383563	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT642958	hsa-miR-877-5p	HITS-CLIP	23824327
MIRT642956	hsa-miR-6866-5p	HITS-CLIP	23824327
MIRT642957	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT642955	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT642954	hsa-miR-1303	HITS-CLIP	23824327
MIRT559980	hsa-miR-4534	PAR-CLIP	20371350
MIRT559979	hsa-miR-8082	PAR-CLIP	20371350
MIRT559978	hsa-miR-3134	PAR-CLIP	20371350
MIRT025722	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT559977	hsa-miR-6077	PAR-CLIP	20371350
MIRT559975	hsa-miR-3161	PAR-CLIP	20371350
MIRT559976	hsa-miR-599	PAR-CLIP	20371350
MIRT559974	hsa-miR-1261	PAR-CLIP	20371350
MIRT559980	hsa-miR-4534	PAR-CLIP	20371350
MIRT559979	hsa-miR-8082	PAR-CLIP	20371350
MIRT559978	hsa-miR-3134	PAR-CLIP	20371350
MIRT025722	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT559977	hsa-miR-6077	PAR-CLIP	20371350
MIRT559975	hsa-miR-3161	PAR-CLIP	20371350
MIRT559976	hsa-miR-599	PAR-CLIP	20371350
MIRT559974	hsa-miR-1261	PAR-CLIP	20371350
MIRT025722	hsa-miR-7-5p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunohistochemistry (IHC), Flow cytometry	35510522
MIRT756464	hsa-miR-182-5p	qRT-PCR	38796528
MIRT1300046	hsa-miR-1253	CLIP-seq
MIRT1300047	hsa-miR-1276	CLIP-seq
MIRT1300048	hsa-miR-182	CLIP-seq
MIRT1300049	hsa-miR-302a	CLIP-seq
MIRT1300050	hsa-miR-302b	CLIP-seq
MIRT1300051	hsa-miR-302c	CLIP-seq
MIRT1300052	hsa-miR-302d	CLIP-seq
MIRT1300053	hsa-miR-302e	CLIP-seq
MIRT1300054	hsa-miR-3691-3p	CLIP-seq
MIRT1300055	hsa-miR-372	CLIP-seq
MIRT1300056	hsa-miR-373	CLIP-seq
MIRT1300057	hsa-miR-4419a	CLIP-seq
MIRT1300058	hsa-miR-4453	CLIP-seq
MIRT1300059	hsa-miR-4510	CLIP-seq
MIRT1300060	hsa-miR-451b	CLIP-seq
MIRT1300061	hsa-miR-4538	CLIP-seq
MIRT1300062	hsa-miR-4676-5p	CLIP-seq
MIRT1300063	hsa-miR-520a-3p	CLIP-seq
MIRT1300064	hsa-miR-520b	CLIP-seq
MIRT1300065	hsa-miR-520c-3p	CLIP-seq
MIRT1300066	hsa-miR-520d-3p	CLIP-seq
MIRT1300067	hsa-miR-520e	CLIP-seq
MIRT1300068	hsa-miR-520f	CLIP-seq
MIRT1300069	hsa-miR-575	CLIP-seq
MIRT1300070	hsa-miR-580	CLIP-seq
MIRT1300048	hsa-miR-182	CLIP-seq
MIRT1300071	hsa-miR-320e	CLIP-seq
MIRT1300058	hsa-miR-4453	CLIP-seq
MIRT1300061	hsa-miR-4538	CLIP-seq
MIRT1300062	hsa-miR-4676-5p	CLIP-seq
MIRT1300069	hsa-miR-575	CLIP-seq
MIRT1300072	hsa-miR-7	CLIP-seq
MIRT2089206	hsa-miR-1275	CLIP-seq
MIRT1300047	hsa-miR-1276	CLIP-seq
MIRT1300048	hsa-miR-182	CLIP-seq
MIRT1300054	hsa-miR-3691-3p	CLIP-seq
MIRT2089207	hsa-miR-4311	CLIP-seq
MIRT1300058	hsa-miR-4453	CLIP-seq
MIRT1300060	hsa-miR-451b	CLIP-seq
MIRT1300061	hsa-miR-4538	CLIP-seq
MIRT2089208	hsa-miR-4665-5p	CLIP-seq
MIRT1300062	hsa-miR-4676-5p	CLIP-seq
MIRT1300069	hsa-miR-575	CLIP-seq
MIRT2089209	hsa-miR-596	CLIP-seq
MIRT1300072	hsa-miR-7	CLIP-seq
MIRT2089210	hsa-miR-759	CLIP-seq
MIRT2089206	hsa-miR-1275	CLIP-seq
MIRT2089208	hsa-miR-4665-5p	CLIP-seq
MIRT1300072	hsa-miR-7	CLIP-seq
MIRT2610567	hsa-miR-135a	CLIP-seq
MIRT2610568	hsa-miR-135b	CLIP-seq
MIRT2610569	hsa-miR-186	CLIP-seq
MIRT2610570	hsa-miR-3163	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
APEX1	Activation	17045925
AR	Repression	18386814
ATF2	Activation	21350211
BCL3	Unknown	7896265
EP300	Unknown	21146504
ETV3	Repression	18025162
FHL2	Unknown	18752053
GATA3	Unknown	19686049
HDAC9	Repression	15964798
HOXA9	Repression	18068911
HSF1	Unknown	18689673
NFKBIA	Activation	9500973
NFKBIA	Repression	11278471;18606063;20173029
NFKBIA	Unknown	15713458;17148610
NR1H4	Activation	21364590
NR1I2	Repression	22248096
PARP1	Unknown	16026317
PGR	Repression	8626413
RUNX1	Unknown	19686049
SP1	Activation	20538607;11964305;9151857
SP1	Unknown	8450395
SP3	Activation	20538607
SP4	Activation	20538607
TNFAIP3	Repression	19124729
TNFAIP3	Unknown	24039598
TP53	Unknown	15988033
TRIM22	Unknown	21651891
USF1	Unknown	19686049

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	17350185
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	IC	1406630
GO:0000785	Component	Chromatin	IDA	1406630, 8413223, 38114488
GO:0000785	Component	Chromatin	IDA	21343296, 26268439
GO:0000785	Component	Chromatin	IEA
GO:0000785	Component	Chromatin	IGI	23729669
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	17350185
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	7959007, 24955228, 25411248
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IMP	18045535
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	1406630, 17350185, 23729669, 23811396, 23878390
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IGI	21806946
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS	21329555
GO:0000979	Function	RNA polymerase II core promoter sequence-specific DNA binding	IDA	21343296
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	3091258, 21343177, 23878390
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001223	Function	Transcription coactivator binding	IPI	23811396
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	17350185
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	1406630, 17350185, 23811396, 26435691
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IGI	21806946
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	26268439
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	21329555
GO:0001818	Process	Negative regulation of cytokine production	IEA
GO:0001889	Process	Liver development	IEA
GO:0001942	Process	Hair follicle development	IEA
GO:0002357	Process	Defense response to tumor cell	IDA	28362429
GO:0002931	Process	Response to ischemia	IEA
GO:0003677	Function	DNA binding	IDA	15790681, 18073330, 23091055
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	IMP	18212740
GO:0003682	Function	Chromatin binding	IDA	19058135
GO:0003682	Function	Chromatin binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	8413223, 12048232, 19103749
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IMP	9425125
GO:0005515	Function	Protein binding	IPI	1493333, 7651415, 7739562, 8246997, 9865693, 10353611, 10498867, 11387332, 11526476, 11591705, 11931769, 12842894, 14600157, 14624448, 14685242, 14743216, 15029197, 15125834, 15140884, 15152190, 15355351, 15601829, 15799966, 15917220, 16291753, 16452207, 16683270, 16951195, 17000776
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	1493333
GO:0005634	Component	Nucleus	IDA	3140380, 15790681, 17350185, 18045535, 18212740, 19058135, 21097510, 21343177, 21343296, 21474709, 21830064, 22065573, 25411248
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IGI	25327529
GO:0005634	Component	Nucleus	IMP	9425125
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IDA	12048232
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005667	Component	Transcription regulator complex	TAS	33785602
GO:0005730	Component	Nucleolus	IDA	21343177
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	3140380, 15790681, 21097510, 21343177, 21830064, 25411248, 27736973
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IGI	23729669
GO:0005829	Component	Cytosol	IDA	21474709, 25327529
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IMP	23178297
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	1406630
GO:0006952	Process	Defense response	IEA
GO:0006954	Process	Inflammatory response	IBA
GO:0006954	Process	Inflammatory response	IDA	10748004
GO:0006954	Process	Inflammatory response	IDA	12924514
GO:0006968	Process	Cellular defense response	NAS	8717528
GO:0007218	Process	Neuropeptide signaling pathway	IGI	21806946
GO:0007249	Process	Canonical NF-kappaB signal transduction	IBA
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	1406630, 12048232, 21343177, 23811396, 23878390
GO:0007249	Process	Canonical NF-kappaB signal transduction	IEA
GO:0007249	Process	Canonical NF-kappaB signal transduction	IGI	21343177
GO:0007249	Process	Canonical NF-kappaB signal transduction	IMP	23619365
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	23091055
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0009617	Process	Response to bacterium	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0010224	Process	Response to UV-B	IDA	15616591
GO:0010575	Process	Positive regulation of vascular endothelial growth factor production	IMP	25196641
GO:0010628	Process	Positive regulation of gene expression	IMP	28159925
GO:0014040	Process	Positive regulation of Schwann cell differentiation	IEA
GO:0016525	Process	Negative regulation of angiogenesis	IMP	23619365
GO:0019221	Process	Cytokine-mediated signaling pathway	IDA	15876188
GO:0019899	Function	Enzyme binding	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0019901	Function	Protein kinase binding	IPI	10521409, 15465828
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IDA	1406630
GO:0030163	Process	Protein catabolic process	IEA
GO:0031490	Function	Chromatin DNA binding	IDA	25411248
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	12748188
GO:0032495	Process	Response to muramyl dipeptide	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032570	Process	Response to progesterone	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IDA	27203220
GO:0032735	Process	Positive regulation of interleukin-12 production	IEA
GO:0032755	Process	Positive regulation of interleukin-6 production	IDA	27203220
GO:0032755	Process	Positive regulation of interleukin-6 production	IMP	25196641
GO:0032757	Process	Positive regulation of interleukin-8 production	IDA	27203220
GO:0032757	Process	Positive regulation of interleukin-8 production	IGI	21343296
GO:0032868	Process	Response to insulin	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IDA	21343177, 25411248
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IGI	28159925
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IMP	23878390
GO:0033234	Process	Negative regulation of protein sumoylation	IEA
GO:0033590	Process	Response to cobalamin	IEA
GO:0034097	Process	Response to cytokine	IBA
GO:0034097	Process	Response to cytokine	IEA
GO:0034142	Process	Toll-like receptor 4 signaling pathway	IDA	25355951
GO:0035525	Component	NF-kappaB p50/p65 complex	IBA
GO:0035525	Component	NF-kappaB p50/p65 complex	IDA	18045535
GO:0035525	Component	NF-kappaB p50/p65 complex	IEA
GO:0035525	Component	NF-kappaB p50/p65 complex	NAS	30205516
GO:0035556	Process	Intracellular signal transduction	IDA	27203220
GO:0035729	Process	Cellular response to hepatocyte growth factor stimulus	IEA
GO:0035994	Process	Response to muscle stretch	IEA
GO:0038061	Process	Non-canonical NF-kappaB signal transduction	IBA
GO:0038061	Process	Non-canonical NF-kappaB signal transduction	IDA	8413223, 12048232
GO:0038084	Process	Vascular endothelial growth factor signaling pathway	IMP	23878390
GO:0038124	Process	Toll-like receptor TLR6:TLR2 signaling pathway	IDA	27708357
GO:0038161	Process	Prolactin signaling pathway	IMP	23619365
GO:0042177	Process	Negative regulation of protein catabolic process	IEA
GO:0042277	Function	Peptide binding	IPI	18045535
GO:0042301	Function	Phosphate ion binding	IDA	10521409
GO:0042542	Process	Response to hydrogen peroxide	IEA
GO:0042802	Function	Identical protein binding	IDA	9437432
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	8246997, 10498867
GO:0042803	Function	Protein homodimerization activity	IDA	18045535, 18212740
GO:0042805	Function	Actinin binding	IEA
GO:0042805	Function	Actinin binding	IPI	25411248
GO:0042826	Function	Histone deacetylase binding	IPI	17785205
GO:0043066	Process	Negative regulation of apoptotic process	IDA	10747850, 23091055
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEP	12761501
GO:0043200	Process	Response to amino acid	IEA
GO:0043278	Process	Response to morphine	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045087	Process	Innate immune response	IBA
GO:0045202	Component	Synapse	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	17350185
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	17350185, 18073330
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	9425125
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	1406630, 8246997, 17350185, 23091055, 23811396, 26435691
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	21343296, 21518763
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	10660609, 21310825, 24955228, 25762865
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS	21329555
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	NAS	30205516
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IEA
GO:0050727	Process	Regulation of inflammatory response	IEA
GO:0050727	Process	Regulation of inflammatory response	ISS
GO:0050862	Process	Positive regulation of T cell receptor signaling pathway	IMP	18045535
GO:0051059	Function	NF-kappaB binding	IPI	8441377
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	15790681
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IGI	18045535
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IMP	18045535
GO:0051591	Process	Response to cAMP	IEA
GO:0051607	Process	Defense response to virus	NAS	8717528
GO:0070301	Process	Cellular response to hydrogen peroxide	IDA	21830064
GO:0070431	Process	Nucleotide-binding oligomerization domain containing 2 signaling pathway	IDA	12527755
GO:0070498	Process	Interleukin-1-mediated signaling pathway	IGI	25327529
GO:0070555	Process	Response to interleukin-1	IGI	15489227
GO:0071159	Component	NF-kappaB complex	IPI	8246997
GO:0071159	Component	NF-kappaB complex	NAS	30205516
GO:0071159	Component	NF-kappaB complex	TAS	33785602
GO:0071222	Process	Cellular response to lipopolysaccharide	IBA
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071222	Process	Cellular response to lipopolysaccharide	IMP	25762865
GO:0071223	Process	Cellular response to lipoteichoic acid	IMP	26649771
GO:0071224	Process	Cellular response to peptidoglycan	IMP	24955228
GO:0071316	Process	Cellular response to nicotine	IMP	22357537
GO:0071347	Process	Cellular response to interleukin-1	IDA	18073330
GO:0071354	Process	Cellular response to interleukin-6	IMP	22357537
GO:0071356	Process	Cellular response to tumor necrosis factor	IDA	18073330, 23091055
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IMP	18045535
GO:0071532	Function	Ankyrin repeat binding	IEA
GO:0098978	Component	Glutamatergic synapse	IDA	12947408
GO:0098978	Component	Glutamatergic synapse	IMP	12947408
GO:0099527	Process	Postsynapse to nucleus signaling pathway	IDA	12947408
GO:0099527	Process	Postsynapse to nucleus signaling pathway	IMP	12947408
GO:0140296	Function	General transcription initiation factor binding	IPI	10849440
GO:0140297	Function	DNA-binding transcription factor binding	IPI	10660609, 15489227, 28362429
GO:0140374	Process	Antiviral innate immune response	IDA	38114488
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	IDA	16968406
GO:1901223	Process	Negative regulation of non-canonical NF-kappaB signal transduction	IMP	18212740
GO:1901224	Process	Positive regulation of non-canonical NF-kappaB signal transduction	IMP	23178297
GO:1902004	Process	Positive regulation of amyloid-beta formation	IEA
GO:1902004	Process	Positive regulation of amyloid-beta formation	ISS	21329555
GO:1902894	Process	Negative regulation of miRNA transcription	IMP	23878390
GO:1902895	Process	Positive regulation of miRNA transcription	IGI	21806946
GO:1902895	Process	Positive regulation of miRNA transcription	IMP	23619365, 26268439
GO:1904385	Process	Cellular response to angiotensin	IMP	22357537
GO:1904996	Process	Positive regulation of leukocyte adhesion to vascular endothelial cell	IMP	25515214
GO:2000630	Process	Positive regulation of miRNA metabolic process	IMP	22357537
GO:2001237	Process	Negative regulation of extrinsic apoptotic signaling pathway	IEA
GO:2001237	Process	Negative regulation of extrinsic apoptotic signaling pathway	IMP	21310825

Other IDs

• MIM: 164014
• HGNC: 9955
• e!Ensembl: ENSG00000173039

Protein

• UniProt ID: Q04206
• Protein name: Transcription factor p65 (Nuclear factor NF-kappa-B p65 subunit) (Nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)
• Protein function: NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammati
• PDB: 1NFI, 2LSP, 2O61, 3GUT, 3QXY, 3RC0, 4KV1, 4KV4, 5U4K, 5URN, 6NV2, 6QHL, 6QHM, 6YOW, 6YOX, 6YOY, 6YP2, 6YP3, 6YP8, 6YPL, 6YPY, 6YQ2, 7BI3, 7BIQ, 7BIW, 7BIY, 7BJB, 7BJF, 7BJL, 7BJW, 7BKH, 7LET, 7LEU, 7LF4, 7NJ9, 7NJB, 7NK3, 7NK5, 7NLA, 7NLE, 7NM1, 7NM3, 7NM9, 7NMH, 7NQP, 7NR7, 7NSV, 7NV4, 7NVI, 7NWS, 7NXS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00554	RHD_DNA_bind	21 → 186	Rel homology DNA-binding domain	Domain
  PF16179	RHD_dimer	195 → 292	Rel homology dimerisation domain	Domain

• Sequence:

  MDELFPLIFPAEPAQASGPYVEIIEQPKQRGMRFRYKCEGRSAGSIPGERSTDTTKTHPT
  IKINGYTGPGTVRISLVTKDPPHRPHPHELVGKDCRDGFYEAELCPDRCIHSFQNLGIQC
  VKKRDLEQAISQRIQTNNNPFQVPIEEQRGDYDLNAVRLCFQVTVRDPSGRPLRLPPVLS
  HPIFDNRAPNTAELKICRVNRNSGSCLGGDEIFLLCDKVQKEDIEVYFTGPGWEARGSFS
  QADVHRQVAIVFRTPPYADPSLQAPVRVSMQLRRPSDRELSEPMEFQYLPDTDDRHRIEE
  KRKRTYETFKSIMKKSPFSGPTDPRPPPRRIAVPSRSSASVPKPAPQPYPFTSSLSTINY
  DEFPTMVFPSGQISQASALAPAPPQVLPQAPAPAPAPAMVSALAQAPAPVPVLAPGPPQA
  VAPPAPKPTQAGEGTLSEALLQLQFDDEDLGALLGNSTDPAVFTDLASVDNSEFQQLLNQ
  GIPVAPHTTEPMLMEYPEAITRLVTGAQRPPDPAPAPLGAPGLPNGLLSGDEDFSSIADM
  DFSALLSQISS

• Sequence length: 551

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
Childhood-onset schizophrenia	Likely pathogenic	rs863223356	RCV000202330	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mucocutaneous ulceration	Likely pathogenic	rs1590931704	RCV000853280	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mucocutaneous ulceration, chronic	Pathogenic; Likely pathogenic	rs2496824516, rs2496833014, rs2496827835, rs749716796, rs1565191003, rs1326268854	RCV003159249 RCV003159250 RCV003494566 RCV003994785 RCV000754619 RCV003147591	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RELA-related disorder	Likely pathogenic; Pathogenic	rs2496867941, rs1856484601	RCV003894623 RCV003396687	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOINFLAMMATORY DISEASE, FAMILIAL, BEHCET-LIKE 3	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOINFLAMMATORY DISEASE, FAMILIAL, BEHCET-LIKE-3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARRETT ESOPHAGUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY CIRRHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN INJURIES, TRAUMATIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, PANCREATIC DUCTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, EXTRAHEPATIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LEFT-SIDED ULCERATIVE COLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLITIS, ULCERATIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY DUE TO RELA HAPLOINSUFFICIENCY	—	ClinGen, Disgenet, Orphanet ClinGen, Disgenet, Orphanet ClinGen, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHNS DISEASE OF LARGE BOWEL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC ANGIOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC PERIPHERAL ANGIOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOCRINE SYSTEM DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATIC INSUFFICIENCY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, ALCOHOLIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, BILIARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CHOLANGITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA, CHILDHOOD	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URETERAL OBSTRUCTION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	23667654, 26378023		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	12458326		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	21901538		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	27959400, 30570131, 31671079		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	12214859, 28317833		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	24054986		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	15256061, 17493236		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	15484295, 17078054, 17493236, 26990751, 9918209		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	31693889		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25499851, 25820700, 29207489		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	16849549, 20556833		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	12722795		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	26910375		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12458326		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	21161674, 21492457		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	16453001, 25706397, 29600938, 30258009		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	21329555	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	31666081, 36159817, 38340719	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	15660915		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	22084410, 27512062		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	26785371, 27512062	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic Ependymoma	Anaplastic Ependymoma	BEFREE	31393268		★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	19957349	Associate	★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	BEFREE	30326340		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	22984424, 31485664		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	23592772, 27454293, 28188806, 30362505		★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	32347623	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	33849116	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	20031636, 39321955	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29257205, 31637885		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	21683061, 26370562, 28107661		★☆☆☆☆ Found in Text Mining only
Arthritis Infectious	Infective arthritis	Pubtator	20740673	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	10857783, 15955104, 24587411	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	11598150, 32365786, 33483588	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	21515993, 25077978	Stimulate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	29932372		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	30738043, 40650018	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	11381677		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	29228370	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	15064395, 31362988	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29257205, 31637885		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	36181724	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	18983609		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29541237, 29896252, 30688264, 31579948, 31599399		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	15744353		★☆☆☆☆ Found in Text Mining only
Barrett Epithelium	Barrett Epithelium	CTD_human_DG	15387324		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	CTD_human_DG	15387324		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Barrett Esophagus	Barrett esophagus	BEFREE	26990751		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet disease	Pubtator	36333776	Stimulate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	36926348	Associate	★☆☆☆☆ Found in Text Mining only
Benign neoplasm of brain, unspecified	Brain Neoplasms	CTD_human_DG	20932960		★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	34648622	Stimulate	★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	CTD_human_DG	30026087		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	CTD_human_DG	30026087		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	25369740, 28629334, 28772241		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	25029242		★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	BEFREE	31203481		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	CTD_human_DG	18628779		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain Neoplasms	BEFREE	15029197		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain Neoplasms	CTD_human_DG	20932960		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain neoplasms	Pubtator	33481105	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Tumor, Primary	Brain Neoplasms	CTD_human_DG	20932960		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15481028, 22821148, 25544568, 29041983, 29181822, 30052635, 30467308, 31077746		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	20154269		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19687301, 20124457, 20482821, 22249250, 23056468, 23317209, 25833211, 26011589, 26218882, 26460486, 26745120, 28423692, 28629477, 29938218, 30553016, 31382678, 35838496, 36412644, 36555293, 37101128, 37507347, 37539706, 37651838, 37977037, 39278618, 39844241, 9681829	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	29644893	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	15790788	Associate	★☆☆☆☆ Found in Text Mining only
Cancer of Nasopharynx	Nasopharyngeal Cancer	BEFREE	25487615		★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	19661309	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	14716817, 25376541, 26801246, 31723122, 35210364, 37203408	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	17078054, 18830930, 19157506, 20546338, 26450901		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	23803172	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	14760757	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	16778086, 20010875, 20628843, 21771706, 22930530, 25169545, 25289898, 26458400, 26655845, 29089476, 31059053, 32003539, 32720731, 35378926, 36069218, 36829052, 37006050, 37730133, 37976890	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	25369740, 28629334, 28772241		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	29573243		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17078054, 24469051, 27046058		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	24530737, 34071938, 37175530	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	20556833, 25299780, 32364285, 35707377, 35864095, 36596765	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	18925694, 28629334, 31097685, 31723229, 35130882	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	20051109, 20564339, 23803172, 31222140, 35756488, 37303736	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	37059366	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20585448, 28167529, 29050320		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	39294340	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31494123		★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	20420814	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	21999375, 30911939		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	17098279, 23382863, 23640294, 25960241, 31460012, 31545447		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	17098279, 23382863, 23640294, 25960241, 31460012, 31545447		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10720133, 12458326, 31728854		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	21161674, 21492457		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	21325634, 23992017	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	CTD_human_DG	20626112		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholelithiasis	Pubtator	34971708	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, Extrahepatic	Cholestasis	CTD_human_DG	28789951, 30026087		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choriocarcinoma	Choriocarcinoma	BEFREE	28259870		★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	18089796		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	26931128	Associate	★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	23640436		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	26678048		★☆☆☆☆ Found in Text Mining only
Chronic leukemia (category)	Leukemia	BEFREE	12458326		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12458326, 15744353, 27524613		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29932372, 30588579		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	40508027	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	24690380	Stimulate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	36159817	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	CTD_human_DG	23810507		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colitis	Colitis	BEFREE	28153604, 28216640, 29901086, 30430451, 8782457		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colitis Ulcerative	Ulcerative colitis	Pubtator	15753535, 20806430, 33299870	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	9616307	Stimulate	★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	18089796		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15013430, 24001836, 26942699, 31351496, 31838134		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	17142966, 25556496, 36246978	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	20715105		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	BEFREE	22949302, 27175800		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	15028307, 15484295, 16284690, 20501702, 22869145, 27338835, 28817833, 29552187, 30816524, 30825051		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15161011, 15484295, 16619535, 19172851, 19513071, 24518414, 25412312, 27264420, 29770434, 30091007, 31180548, 31299935, 31723122, 31802830, 33213490, 33859619	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	15484295		★☆☆☆☆ Found in Text Mining only
Congenital myasthenic syndrome with episodic apnea	Congenital myasthenic syndrome	Pubtator	25829454	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	20797985, 23640436		★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	Pubtator	36926348	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	18089796		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21167650, 29935727		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28355355, 29849452		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	35801781	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	33849106, 40184077	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30581189		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	10517905, 25956706, 34629811	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	BEFREE	25956706, 8782457, 9928378		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn disease	Pubtator	9616307	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Fibrosis	Cystic Fibrosis	BEFREE	31607634		★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	CTD_human_DG	22099998		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystitis	Cystitis	BEFREE	25369740		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystitis	Cystitis	Pubtator	25369740	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	BEFREE	20822710, 26209501, 26816250, 28000846, 28482921, 28537665, 28642243, 29072705, 29333456, 31545916		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	21905285, 30665389		★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	26907088		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	28464025, 29767264, 30551443, 30642981		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	28713916	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	15660915, 28713916		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	28713916		★☆☆☆☆ Found in Text Mining only
Deuteranomaly	Deuteranomaly	BEFREE	31032942		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28534138		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	26053136	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	33019392, 36499008	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	24936866, 30367115, 37174649	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28534138		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	34260684	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	20067962, 35032412	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	24936866, 33562405, 37047308	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30076618		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	23500658		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25880845, 29475461		★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic cardiomyopathy	CTD_human_DG	25381014		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	CTD_human_DG	17900838		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	24608443, 24936866, 28478303, 29104634, 30038056		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Neuropathies	Diabetic Nephropathy	LHGDN	15599399		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	29853786, 31599399		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	29853786	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	24607031	Associate	★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	22438958		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	26498772		★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	11159171	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	23830204		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	23830204	Associate	★☆☆☆☆ Found in Text Mining only
EAR, PATELLA, SHORT STATURE SYNDROME	Ear Diseases	BEFREE	31638207		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	21515911		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	15660915		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	31049785		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	22711307		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	24042437	Associate	★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	BEFREE	24118362, 29679753		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	17889859		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	22196717, 31551156	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	24118362		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	37095705	Stimulate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	24553141, 25182241, 25388523, 27022130, 27121356, 27401149, 27556362, 28510691, 28831588, 28943417, 29266023, 29354850, 29949754, 29949764, 30325077, 30514397, 30631904, 30876455, 31124566, 31150846, 31308481, 31388782, 31393268, 31728854		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	ORPHANET_DG	24553141		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	Orphanet			★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epidermal Nevus	Epidermal nevus	Pubtator	15016307	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29393419		★☆☆☆☆ Found in Text Mining only
Epiretinal Membrane	Epiretinal Membrane	BEFREE	28402943		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	28167529		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	22292433		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	19435811, 26662448, 30450849, 34182081	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	22292433		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	16680372, 28832500, 29428966, 33374641, 33572115, 34182081	Associate	★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	36926348	Associate	★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	32901872	Inhibit	★☆☆☆☆ Found in Text Mining only
Familial Mediterranean Fever	Familial mediterranean fever	Pubtator	39684669	Associate	★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	24124488	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	24501220		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	24501220		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28038359		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	8234333		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	12722795		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	18497548	Associate	★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	30322331		★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	27694141	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	31363162		★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	19965620	Associate	★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	BEFREE	25037760		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	19816602	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	31093481		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11381677, 21423202, 24244348, 27994064, 28465487, 28497156, 29062041, 29449895, 31616160		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	11381677, 20669099, 24413684, 27994064, 31992226, 33446690, 35770335	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11381677, 21423202, 24244348, 27994064, 28465487, 28497156, 29062041, 29449895, 31332862, 31616160		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	17404102, 21279667, 22509977, 23797602, 26502849, 28465487, 29769161, 32127518, 33127881, 40530904	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28465487, 28969029, 30740911, 30779920, 30978403		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	19037255	Associate	★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid Receptor Deficiency	BEFREE	15200413		★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid receptor deficiency/resistance	Pubtator	15200413, 30738043	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	34994235	Stimulate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	24501220		★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Gray Platelet Syndrome	BEFREE	28450921		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	31572379		★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	12823437		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	19789307, 35176168, 37685940	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	25821786	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	20797985		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	23640436	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	30245189	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	11679977	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	39199380	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	8630409	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	18809715, 19208907, 20599797, 25610879, 28148567, 30151392		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	31678650		★☆☆☆☆ Found in Text Mining only
Hyperoxia	Hyperoxia	Pubtator	14617515	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	20051109	Associate	★☆☆☆☆ Found in Text Mining only
Hypersplenism	Hypersplenism	BEFREE	23195252		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	19018797, 27659729		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	30065083		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism	Hyperthyroidism	BEFREE	18472049		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	31252266		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	10383461, 17468103, 26743692, 35186183	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	10825178, 20157762, 24593195, 28874504, 29769799, 30091007	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyosis Vulgaris	Ichthyosis vulgaris	Pubtator	37960775	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29442198, 30591962, 31841209		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30928090		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	31545224	Associate	★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	19037255, 29230705, 30519926		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31660818		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	28617068	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye	BEFREE	28609207		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	29156761, 9928378		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	28464025, 30642981		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	28646230, 30076618		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	29617687, 32705171	Stimulate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	30717434	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	37222533	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	30076618		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	14966904	Stimulate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	30808715		★☆☆☆☆ Found in Text Mining only
Intracranial Embolism	Intracranial embolism	Pubtator	28460441	Associate	★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	11753981		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	25500022	Inhibit	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	28525373		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	26254060, 30961627		★☆☆☆☆ Found in Text Mining only
Keratosis Seborrheic	Seborrheic keratosis	Pubtator	23803172	Stimulate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	18201972	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28315683, 29723660, 31754396		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	24997640		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30257316		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	CTD_human_DG	19420110		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	BEFREE	21832251		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Neoplasms	Kidney neoplasm	Pubtator	15004148	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	23981302, 29991691, 31187116, 37047552	Associate	★☆☆☆☆ Found in Text Mining only
Lambert-Eaton Myasthenic Syndrome	Lambert-Eaton Myasthenic Syndrome	BEFREE	31236596		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	26395262		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	26453978, 32199621	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy Lepromatous	Leprosy	Pubtator	9453602	Inhibit	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12458326, 23445492, 28832545		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	15964800, 18952893, 23445492, 28832545	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	33439746	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23077289, 23667654, 27342972, 34719869, 35316152	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12458326, 19079347, 23077289, 23457487, 25092144		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	16453001, 25706397, 29600938, 30258009		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	16998793		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	11278855	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16544977, 18972404, 21771706, 22008847, 22293202, 22930530, 23054188, 24760275, 26458400, 28260799, 28423737, 29089476, 29616186, 29988727, 30169594, 30277836, 30455641, 31469428, 31680772		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	11679977, 30926424	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	23195252		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	CTD_human_DG	23274713		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Failure	Liver failure	Pubtator	15723090, 30926424, 34971708	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	17660862	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	28447718, 29191769		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	21771706, 22008847, 22293202		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	33810600, 33973530	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	18215193		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	18424438, 18636537, 22693540, 26526492, 26689593, 29850505, 38058058, 39327549	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	28295231		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	23874208, 36482627	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	28295231		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	12027419, 12847689, 28295231		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	28338190	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	28295231		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	14716817, 18215193, 20009901, 26662448, 34994235	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	30542119		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	CTD_human_DG	20932960		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15481028, 17369819, 22821148, 25544568, 29041983, 29181822, 30052635, 30467308, 31077746		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	20154269		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	22711307		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	22292433		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	31187116		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	29573243		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	19428110, 21771706		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17078054, 24469051, 27046058		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	16998793		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of nasopharynx	Nasopharyngeal carcinoma	BEFREE	25487615		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	20585448, 29050320		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	19880242, 20686216		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12569576, 12727841, 21169414, 24066029, 25749044, 26165401, 26359363, 26450901, 27673408, 31265453		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	CTD_human_DG	23069812		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16284690, 24673584, 26801246, 26934326, 30106137		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	12722795, 29525603, 30171715, 31181609		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	25369740, 28629334, 28772241		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15028307, 15192014, 15328189, 17403432, 17671195, 18519709, 19201992, 20009901, 22941571, 24553141, 25405520, 26592237, 26934326, 27454293, 28397014, 28874504, 28899500, 29065834, 29337531, 29620225, 30014762, 30274235, 30671574, 30993883, 31265453, 31308481, 31375269, 31545447, 31820042		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	17098279, 23382863, 23640294, 25960241, 31460012, 31545447		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	15013430, 24001836, 26942699, 31838134		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	20715105		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	20154269		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12067985, 12690099, 12972607		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	20154269		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	22941571, 24970818		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	20154269		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	21161674, 21492457		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	11775058, 12665595, 15016307, 18668140, 21738696, 22022384, 22095230, 28627651, 32466509, 37843471	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	15016307		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24130172, 25277211, 28821433		★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	24690380	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	35986385	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	LHGDN	17493236		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	30926763	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	31816875	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	26052894		★☆☆☆☆ Found in Text Mining only
Microangiopathy, Diabetic	Diabetic cardiomyopathy	CTD_human_DG	25381014		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	19079347		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	21742773	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	27632526, 35396527	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	28587409		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	16917511		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	16497877, 21816815, 25565020, 30387821, 32977994, 36867577	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	25565020, 28789366		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	17258784, 17889033, 26062845, 29503661, 29655870, 31362762		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	17258784		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	17258784, 30463275, 32241259	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	17380205, 27997693		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	19079347		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	20482842, 27492973, 28461114		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	28355355, 29849452		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	19068102, 21442076		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	15967702, 17151784, 20051109, 23975427, 25487615, 31427673		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	17151784, 20051109, 24961145, 25974126, 34994235, 35463684	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	20051109, 25487615	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	31324163	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10416616, 10870681, 11753981, 12740642, 15028307, 15210855, 15484295, 15561777, 1566083, 16327981, 16332260, 17078054, 18079962, 18334025, 19201992, 21901538, 22186294, 22552693, 23300567, 24553141, 25230791, 25238407, 25388523, 25499851, 26395262, 26398300, 26487364, 26801246, 27175800, 27830724, 27989877, 28222771, 28423692, 28545028, 28548219, 28831588, 28858735, 29017500, 29062041, 29218246, 29350470, 29467844, 29573243, 30014762, 30169594, 30372446, 30514397, 30643424, 30740911, 30868390, 30903649, 30932261, 31221816, 31310330, 31680772, 31728854, 31769216, 8234333, 9047386		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	CTD_human_DG	20932960		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	28849172		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	LHGDN	14688382, 15200413		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	15200413	Inhibit	★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	28865949		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	20103633, 23071666		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	Pubtator	23071666, 39905449	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30946927		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	20051109		★☆☆☆☆ Found in Text Mining only
Nodular glomerulosclerosis	Glomerulosclerosis	CTD_human_DG	17900838		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31252266		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17078054, 25156800, 26336823, 29363879, 29532994, 29535539, 30932261		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	37047308, 37174649, 37403139	Associate	★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	15731292, 28537665, 30081074, 32633338, 33953899, 34737366, 36281111, 36619785	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	30135182	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	28829242		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	29091322, 30854667		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28478803		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	36011257	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	18598236		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29628496, 29847772, 30387173, 31262893		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	31690262, 39190380	Associate	★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	Pubtator	26178921	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	20585448		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	24963474	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	18314621, 19067848		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29050320		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20564628, 20585448, 24337575, 24963474, 25376541, 26617813, 27012551, 27982283, 30983127, 34626802, 37210768, 40313149, 9914486	Associate	★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	24001836		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19880242		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	20556833, 27454293, 30362505		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	12618762, 12767057		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	19880242		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	17622249, 19670328, 19912635, 20484017, 24136929, 33098056, 36596765	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	29359164		★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	17962362	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	16849549, 17962362		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	LHGDN	17962362		★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	18089796		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	26637328, 31181609		★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	40508027	Associate	★☆☆☆☆ Found in Text Mining only
Paratuberculosis	Paratuberculosis	BEFREE	31003915		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	23669642, 35802825, 40435035	Associate	★☆☆☆☆ Found in Text Mining only
Pelger-Huet Anomaly	Pelger-Huet Anomaly	BEFREE	8450395		★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical Periodontitis	BEFREE	30184545		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	25037760, 29287688		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	25037760, 35032412, 37351818	Associate	★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal fibrosis	Pubtator	12753293	Associate	★☆☆☆☆ Found in Text Mining only
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A	Zellweger Syndrome	BEFREE	28028753		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	28402943		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	28617068, 35485360	Stimulate	★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	28734155		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	CTD_human_DG	30026087		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	31236596		★☆☆☆☆ Found in Text Mining only
Primary malignant neoplasm of brain	Brain Neoplasms	CTD_human_DG	20932960		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	28402943		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12569576, 12727841, 15498932, 24066029, 25749044, 26165401, 26359363, 26450901, 27673408, 31265453		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	27435858	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	16278667	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	15328189		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	16205698, 16278667, 18942118, 23991415, 24066029, 24080497, 25971429, 26186215, 27435858, 27673408, 28208611, 31539119, 31600936, 31730277, 34445612, 35805202, 37716704	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	26253870		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32324163	Inhibit	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	28713916, 30551443		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	12358328, 26809128	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	19296848, 26617776, 40508027	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	24465776	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	23583295		★☆☆☆☆ Found in Text Mining only
Recurrent Brain Neoplasm	Brain Neoplasms	CTD_human_DG	20932960		★☆☆☆☆ Found in Text Mining only
RELA fusion-positive ependymoma	RELA Fusion-Positive Ependymoma	ORPHANET_DG	28895660		★☆☆☆☆ Found in Text Mining only
RELA fusion-positive ependymoma	RELA Fusion-Positive Ependymoma	Orphanet			★☆☆☆☆ Found in Text Mining only
RELA fusion-positive ependymoma	RELA Fusion-Positive Ependymoma	BEFREE	30929114		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	31187116		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	18089796		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29935727		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	31214773, 31281400		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	20494139		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	23797008	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11884470, 19877072, 20822710, 21683061, 23072581, 26370562, 28467992, 28783661, 29784872, 29966968, 30152858, 30988705, 31239367		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	21177920, 21653741	Inhibit	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	25388523, 28248815		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	25388523	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	30029010	Associate	★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	18089796		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21593732		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	21593732		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	33562405	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia, Childhood	Schizophrenia	CLINVAR_DG	26508570		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma	Scleroderma	BEFREE	22139845		★☆☆☆☆ Found in Text Mining only
Secondary Biliary Cholangitis	Biliary Cholangitis	CTD_human_DG	30026087		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	25880845	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	15972680, 24913772, 25880845, 26159927, 28800541		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	16219794	Associate	★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	BEFREE	17040605		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	22157716, 29600938	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	28713916	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	CTD_human_DG	23069812		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Apnea Obstructive	Sleep apnea	Pubtator	24293770, 33335174	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	27754829, 34768848	Stimulate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	27754829		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	32767507	Associate	★☆☆☆☆ Found in Text Mining only
Solitary fibrous tumor	Solitary fibrous tumor	BEFREE	31124566		★☆☆☆☆ Found in Text Mining only
Spinal Cord Neoplasms	Spinal Cord Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	31019235		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	11753981, 17237265, 20051109		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	16680372, 21610149, 22186294, 22552693, 26439687, 26718331, 30542119		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	11044363, 19789307, 22641218, 25868613, 26395262, 28386055, 34553218, 35176168, 37134043, 37391526	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	30646812, 31683603		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	20716363, 24063540		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	29518496, 30250646		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	31061316		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	18290776		★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	15200413		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11751513, 16284690, 24673584, 26801246, 26934326, 30106137		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	14716817, 15682491, 18720533, 23002344, 23824821, 24127926, 24587255, 26801246, 27042000, 28347236, 30106137, 31556767, 31992226, 33637015, 35969010, 36336860, 37858201, 39181686	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	14966904	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	LHGDN	15682491, 15905616, 18798274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stroke	Stroke	Pubtator	19957349	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	30018671		★☆☆☆☆ Found in Text Mining only
Supratentorial Neoplasms	Supratentorial Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	22139845		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	30946927		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	33810533	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	35543351	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	12722795, 29525603, 30014762, 30171715, 31181609, 9365245		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	12722795		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	29525603, 30171715, 31181609		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	16024612, 37960775	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26494004, 30089134, 30269739, 31731625, 35955813, 39278618	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	27393618, 29487338, 30612216		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	LHGDN	11953203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	BEFREE	15133865, 15753535, 18996285, 19369513, 31714673, 9928378		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	CTD_human_DG	15955209		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25369740	Stimulate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	28629334, 31262971, 34517533	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	23640294	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	22390170, 23640294, 28545028, 31128029, 39707317	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	28248815, 31478943		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	Pubtator	37653797	Associate	★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	31837307		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	29115381	Associate	★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	25821786	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	37287971	Associate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	22931316	Associate	★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	26037922	Associate	★☆☆☆☆ Found in Text Mining only