IKBKB (inhibitor of nuclear factor kappa B kinase subunit beta)

Gene

• Entrez ID: 3551
• Gene name: Inhibitor of nuclear factor kappa B kinase subunit beta
• Gene symbol: IKBKB
• Synonyms (NCBI Gene): IKK-2, IKK-beta, IKK2, IKKB, IMD15, IMD15A, IMD15B, NFKBIKB
• Chromosome: 8
• Chromosome location: 8p11.21
• Summary: The protein encoded by this gene phosphorylates the inhibitor in the inhibitor/NF-kappa-B complex, causing dissociation of the inhibitor and activation of NF-kappa-B. The encoded protein itself is found in a complex of proteins. Several transcript variant

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs200296680	C>T	Pathogenic	Stop gained, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs886041036	->G	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1563340753	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant, 5 prime UTR variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003828	hsa-miR-199a-5p	Reporter assay, Western blot	18408758
MIRT003828	hsa-miR-199a-5p	GFP reporter assay, Luciferase reporter assay, qRT-PCR	18408758
MIRT003828	hsa-miR-199a-5p	GFP reporter assay, Luciferase reporter assay, qRT-PCR	18408758
MIRT003828	hsa-miR-199a-5p	GFP reporter assay, Luciferase reporter assay, qRT-PCR	18408758
MIRT003828	hsa-miR-199a-5p	Luciferase reporter assay	18408758
MIRT004030	hsa-miR-218-5p	Luciferase reporter assay, qRT-PCR, Western blot	20933503
MIRT004030	hsa-miR-218-5p	Luciferase reporter assay, qRT-PCR, Western blot	20933503
MIRT004030	hsa-miR-218-5p	Luciferase reporter assay, qRT-PCR, Western blot	20933503
MIRT004030	hsa-miR-218-5p	Luciferase reporter assay, qRT-PCR, Western blot	20933503
MIRT006884	hsa-miR-200c-3p	Luciferase reporter assay, Western blot	22569286
MIRT018148	hsa-miR-335-5p	Microarray	18185580
MIRT043610	hsa-miR-151a-3p	CLASH	23622248
MIRT054428	hsa-miR-503-5p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	24550137
MIRT438803	hsa-miR-451a	5.0	23740840
MIRT438803	hsa-miR-451a	5.0	23740840
MIRT006884	hsa-miR-200c-3p	Luciferase reporter assay	24755559
MIRT006884	hsa-miR-200c-3p	Luciferase reporter assay	24755559
MIRT438803	hsa-miR-451a	5.0	23740840
MIRT438803	hsa-miR-451a	5.0	23740840
MIRT006884	hsa-miR-200c-3p	Luciferase reporter assay	24755559
MIRT006884	hsa-miR-200c-3p	Luciferase reporter assay	24755559
MIRT732818	hsa-miR-214-3p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blotting	33714889
MIRT1062986	hsa-miR-129-3p	CLIP-seq
MIRT1062987	hsa-miR-938	CLIP-seq
MIRT1062988	hsa-miR-1185	CLIP-seq
MIRT1062989	hsa-miR-1323	CLIP-seq
MIRT1062990	hsa-miR-2392	CLIP-seq
MIRT1062991	hsa-miR-3065-5p	CLIP-seq
MIRT1062992	hsa-miR-3125	CLIP-seq
MIRT1062993	hsa-miR-3605-5p	CLIP-seq
MIRT1062994	hsa-miR-3622a-3p	CLIP-seq
MIRT1062995	hsa-miR-3622b-3p	CLIP-seq
MIRT1062996	hsa-miR-3675-5p	CLIP-seq
MIRT1062997	hsa-miR-3679-5p	CLIP-seq
MIRT1062998	hsa-miR-3916	CLIP-seq
MIRT1062999	hsa-miR-4640-5p	CLIP-seq
MIRT1063000	hsa-miR-4726-5p	CLIP-seq
MIRT1063001	hsa-miR-4755-3p	CLIP-seq
MIRT1063002	hsa-miR-515-5p	CLIP-seq
MIRT1063003	hsa-miR-548o	CLIP-seq
MIRT1063004	hsa-miR-942	CLIP-seq
MIRT1063005	hsa-miR-106a	CLIP-seq
MIRT1063006	hsa-miR-106b	CLIP-seq
MIRT1063007	hsa-miR-1229	CLIP-seq
MIRT1063008	hsa-miR-17	CLIP-seq
MIRT1063009	hsa-miR-20a	CLIP-seq
MIRT1063010	hsa-miR-20b	CLIP-seq
MIRT1063011	hsa-miR-2116	CLIP-seq
MIRT1063012	hsa-miR-3120-5p	CLIP-seq
MIRT1063013	hsa-miR-3145-5p	CLIP-seq
MIRT1063014	hsa-miR-3607-3p	CLIP-seq
MIRT1063015	hsa-miR-3609	CLIP-seq
MIRT1063016	hsa-miR-3648	CLIP-seq
MIRT1063017	hsa-miR-3941	CLIP-seq
MIRT1063018	hsa-miR-4255	CLIP-seq
MIRT1063019	hsa-miR-4266	CLIP-seq
MIRT1063020	hsa-miR-4323	CLIP-seq
MIRT1063021	hsa-miR-4434	CLIP-seq
MIRT1063022	hsa-miR-4514	CLIP-seq
MIRT1063023	hsa-miR-4516	CLIP-seq
MIRT1063024	hsa-miR-4645-5p	CLIP-seq
MIRT1063025	hsa-miR-466	CLIP-seq
MIRT1063026	hsa-miR-4672	CLIP-seq
MIRT1063027	hsa-miR-4673	CLIP-seq
MIRT1063028	hsa-miR-4677-5p	CLIP-seq
MIRT1063029	hsa-miR-4692	CLIP-seq
MIRT1063030	hsa-miR-4731-3p	CLIP-seq
MIRT1063001	hsa-miR-4755-3p	CLIP-seq
MIRT1063031	hsa-miR-4758-3p	CLIP-seq
MIRT1063032	hsa-miR-4796-3p	CLIP-seq
MIRT1063033	hsa-miR-4801	CLIP-seq
MIRT1063034	hsa-miR-508-5p	CLIP-seq
MIRT1063035	hsa-miR-519d	CLIP-seq
MIRT1063036	hsa-miR-548ah	CLIP-seq
MIRT1063037	hsa-miR-548g	CLIP-seq
MIRT1063038	hsa-miR-600	CLIP-seq
MIRT1063039	hsa-miR-651	CLIP-seq
MIRT1063040	hsa-miR-93	CLIP-seq
MIRT1063005	hsa-miR-106a	CLIP-seq
MIRT1063006	hsa-miR-106b	CLIP-seq
MIRT1063041	hsa-miR-1270	CLIP-seq
MIRT1063008	hsa-miR-17	CLIP-seq
MIRT1063042	hsa-miR-185	CLIP-seq
MIRT1063009	hsa-miR-20a	CLIP-seq
MIRT1063010	hsa-miR-20b	CLIP-seq
MIRT1063043	hsa-miR-2278	CLIP-seq
MIRT1063014	hsa-miR-3607-3p	CLIP-seq
MIRT1063015	hsa-miR-3609	CLIP-seq
MIRT1063044	hsa-miR-3918	CLIP-seq
MIRT1063045	hsa-miR-3973	CLIP-seq
MIRT1063046	hsa-miR-4270	CLIP-seq
MIRT1063047	hsa-miR-4306	CLIP-seq
MIRT1063048	hsa-miR-4438	CLIP-seq
MIRT1063049	hsa-miR-4441	CLIP-seq
MIRT1063050	hsa-miR-4512	CLIP-seq
MIRT1063051	hsa-miR-4531	CLIP-seq
MIRT1063052	hsa-miR-4644	CLIP-seq
MIRT1063053	hsa-miR-4722-5p	CLIP-seq
MIRT1063030	hsa-miR-4731-3p	CLIP-seq
MIRT1063054	hsa-miR-4768-3p	CLIP-seq
MIRT1063032	hsa-miR-4796-3p	CLIP-seq
MIRT1063033	hsa-miR-4801	CLIP-seq
MIRT1063035	hsa-miR-519d	CLIP-seq
MIRT1063055	hsa-miR-548ac	CLIP-seq
MIRT1063056	hsa-miR-548ae	CLIP-seq
MIRT1063036	hsa-miR-548ah	CLIP-seq
MIRT1063057	hsa-miR-548aj	CLIP-seq
MIRT1063058	hsa-miR-548am	CLIP-seq
MIRT1063059	hsa-miR-548d-3p	CLIP-seq
MIRT1063060	hsa-miR-548x	CLIP-seq
MIRT1063061	hsa-miR-548z	CLIP-seq
MIRT1063062	hsa-miR-583	CLIP-seq
MIRT1063063	hsa-miR-590-3p	CLIP-seq
MIRT1063064	hsa-miR-620	CLIP-seq
MIRT1063040	hsa-miR-93	CLIP-seq
MIRT2014892	hsa-miR-22	CLIP-seq
MIRT2014893	hsa-miR-2467-3p	CLIP-seq
MIRT2014894	hsa-miR-28-5p	CLIP-seq
MIRT1062992	hsa-miR-3125	CLIP-seq
MIRT2014895	hsa-miR-3139	CLIP-seq
MIRT1062998	hsa-miR-3916	CLIP-seq
MIRT2014896	hsa-miR-4476	CLIP-seq
MIRT2014897	hsa-miR-4533	CLIP-seq
MIRT1062999	hsa-miR-4640-5p	CLIP-seq
MIRT2014898	hsa-miR-4659a-5p	CLIP-seq
MIRT2014899	hsa-miR-4659b-5p	CLIP-seq
MIRT1063000	hsa-miR-4726-5p	CLIP-seq
MIRT2014900	hsa-miR-4769-3p	CLIP-seq
MIRT2014901	hsa-miR-558	CLIP-seq
MIRT2014902	hsa-miR-708	CLIP-seq
MIRT2247171	hsa-miR-103a	CLIP-seq
MIRT2247172	hsa-miR-107	CLIP-seq
MIRT2247173	hsa-miR-146b-3p	CLIP-seq
MIRT2247174	hsa-miR-148a	CLIP-seq
MIRT2247175	hsa-miR-148b	CLIP-seq
MIRT2247176	hsa-miR-152	CLIP-seq
MIRT2247177	hsa-miR-15a	CLIP-seq
MIRT2247178	hsa-miR-15b	CLIP-seq
MIRT2247179	hsa-miR-16	CLIP-seq
MIRT2247180	hsa-miR-1825	CLIP-seq
MIRT2247181	hsa-miR-1913	CLIP-seq
MIRT2247182	hsa-miR-195	CLIP-seq
MIRT2247183	hsa-miR-199b-5p	CLIP-seq
MIRT2247184	hsa-miR-214	CLIP-seq
MIRT1062992	hsa-miR-3125	CLIP-seq
MIRT2247185	hsa-miR-3166	CLIP-seq
MIRT2247186	hsa-miR-3173-5p	CLIP-seq
MIRT2247187	hsa-miR-3195	CLIP-seq
MIRT2247188	hsa-miR-324-3p	CLIP-seq
MIRT2247189	hsa-miR-331-3p	CLIP-seq
MIRT2247190	hsa-miR-34a	CLIP-seq
MIRT2247191	hsa-miR-34c-5p	CLIP-seq
MIRT2247192	hsa-miR-3607-5p	CLIP-seq
MIRT2247193	hsa-miR-3619-5p	CLIP-seq
MIRT2247194	hsa-miR-371b-3p	CLIP-seq
MIRT2247195	hsa-miR-3914	CLIP-seq
MIRT1062998	hsa-miR-3916	CLIP-seq
MIRT2247196	hsa-miR-3917	CLIP-seq
MIRT2247197	hsa-miR-3925-3p	CLIP-seq
MIRT2247198	hsa-miR-3944-5p	CLIP-seq
MIRT2247199	hsa-miR-423-3p	CLIP-seq
MIRT2247200	hsa-miR-424	CLIP-seq
MIRT2247201	hsa-miR-4292	CLIP-seq
MIRT2247202	hsa-miR-4302	CLIP-seq
MIRT1063048	hsa-miR-4438	CLIP-seq
MIRT2247203	hsa-miR-449a	CLIP-seq
MIRT2247204	hsa-miR-449b	CLIP-seq
MIRT2247205	hsa-miR-4519	CLIP-seq
MIRT2247206	hsa-miR-4522	CLIP-seq
MIRT2247207	hsa-miR-4524	CLIP-seq
MIRT2247208	hsa-miR-4529-5p	CLIP-seq
MIRT1062999	hsa-miR-4640-5p	CLIP-seq
MIRT2247209	hsa-miR-4677-3p	CLIP-seq
MIRT2247210	hsa-miR-4707-5p	CLIP-seq
MIRT1063000	hsa-miR-4726-5p	CLIP-seq
MIRT2247211	hsa-miR-4751	CLIP-seq
MIRT2247212	hsa-miR-4766-5p	CLIP-seq
MIRT2247213	hsa-miR-4771	CLIP-seq
MIRT2247214	hsa-miR-4802-5p	CLIP-seq
MIRT2247215	hsa-miR-497	CLIP-seq
MIRT2247216	hsa-miR-503	CLIP-seq
MIRT2247217	hsa-miR-518e	CLIP-seq
MIRT2247218	hsa-miR-524-3p	CLIP-seq
MIRT2247219	hsa-miR-525-3p	CLIP-seq
MIRT1063063	hsa-miR-590-3p	CLIP-seq
MIRT2247220	hsa-miR-646	CLIP-seq
MIRT2247221	hsa-miR-648	CLIP-seq
MIRT2247222	hsa-miR-761	CLIP-seq
MIRT2247223	hsa-miR-765	CLIP-seq
MIRT2247224	hsa-miR-873	CLIP-seq
MIRT2247225	hsa-miR-874	CLIP-seq
MIRT1063024	hsa-miR-4645-5p	CLIP-seq
MIRT1063027	hsa-miR-4673	CLIP-seq
MIRT2451668	hsa-miR-1234	CLIP-seq
MIRT2451669	hsa-miR-3189-5p	CLIP-seq
MIRT1063020	hsa-miR-4323	CLIP-seq
MIRT1063022	hsa-miR-4514	CLIP-seq
MIRT1063024	hsa-miR-4645-5p	CLIP-seq
MIRT1063027	hsa-miR-4673	CLIP-seq
MIRT1063029	hsa-miR-4692	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000209	Process	Protein polyubiquitination	IDA	25860612
GO:0002221	Process	Pattern recognition receptor signaling pathway	IEA
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	TAS
GO:0002479	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS
GO:0002755	Process	MyD88-dependent toll-like receptor signaling pathway	TAS
GO:0004672	Function	Protein kinase activity	IDA	20434986
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	EXP	18692471, 23613522
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	11297557, 12656673, 14673179, 15084260, 25326418, 25636800, 32209697
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	TAS
GO:0005515	Function	Protein binding	IPI	9520446, 9751060, 10521409, 10733566, 11297557, 11971985, 12482991, 12486103, 12656673, 12842894, 14743216, 15084260, 15389287, 15601829, 15749833, 16126728, 16129692, 16286467, 16319058, 16365431, 16938294, 17363973, 17568778, 17693255, 17939994, 18198944, 18266467, 18462684, 18930
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	9804806
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	34721373
GO:0006468	Process	Protein phosphorylation	IDA	15084260, 20434986
GO:0006468	Process	Protein phosphorylation	NAS	9346484
GO:0006954	Process	Inflammatory response	IDA	10748004
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	TAS	18626576
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	1406630, 1493333, 25038658, 34721373
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	9346484, 20434986
GO:0007249	Process	Canonical NF-kappaB signal transduction	IMP	15383541, 25816133
GO:0007249	Process	Canonical NF-kappaB signal transduction	TAS	18626576
GO:0008384	Function	IkappaB kinase activity	IDA	9346484
GO:0008384	Function	IkappaB kinase activity	IEA
GO:0008384	Function	IkappaB kinase activity	TAS	11297557, 18626576
GO:0008385	Component	IkappaB kinase complex	IBA
GO:0008385	Component	IkappaB kinase complex	IEA
GO:0008385	Component	IkappaB kinase complex	IPI	20434986
GO:0008385	Component	IkappaB kinase complex	TAS	18626576
GO:0009615	Process	Response to virus	IEA
GO:0009615	Process	Response to virus	TAS	18626576
GO:0009898	Component	Cytoplasmic side of plasma membrane	ISS
GO:0010604	Process	Positive regulation of macromolecule metabolic process	IEA
GO:0010803	Process	Regulation of tumor necrosis factor-mediated signaling pathway	TAS
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0018105	Process	Peptidyl-serine phosphorylation	IDA	21399639, 25326418
GO:0019901	Function	Protein kinase binding	IPI	12492477
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IDA	1406630, 25038658, 34721373
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IDA	9346484
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IBA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IMP	12656673, 15084260, 25816133
GO:0034121	Process	Regulation of toll-like receptor signaling pathway	TAS
GO:0034138	Process	Toll-like receptor 3 signaling pathway	TAS
GO:0035631	Component	CD40 receptor complex	ISS
GO:0035666	Process	TRIF-dependent toll-like receptor signaling pathway	TAS
GO:0038061	Process	Non-canonical NF-kappaB signal transduction	IDA	8413223
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0042802	Function	Identical protein binding	IPI	16319058, 21423167, 23776406
GO:0042803	Function	Protein homodimerization activity	IDA	23091055
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IBA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	9346484, 12656673
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IMP	30337470
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IDA	25038658
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	TAS	18626576
GO:0045121	Component	Membrane raft	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	9346484, 9346485, 9813230
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	23091055, 23453807
GO:0046982	Function	Protein heterodimerization activity	IDA	23091055
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	15790681
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	TAS	18626576
GO:0051403	Process	Stress-activated MAPK cascade	TAS
GO:0051604	Process	Protein maturation	IDA	25860612
GO:0051604	Process	Protein maturation	IDA	11297557
GO:0070498	Process	Interleukin-1-mediated signaling pathway	IMP	25816133
GO:0070498	Process	Interleukin-1-mediated signaling pathway	TAS
GO:0071356	Process	Cellular response to tumor necrosis factor	IDA	23091055
GO:0072659	Process	Protein localization to plasma membrane	IMP	25816133
GO:0097110	Function	Scaffold protein binding	IDA	23776175
GO:0097110	Function	Scaffold protein binding	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	IDA	16968406
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	IDA	16968406
GO:1903140	Process	Regulation of establishment of endothelial barrier	IMP	25816133
GO:1903347	Process	Negative regulation of bicellular tight junction assembly	IMP	25816133
GO:1990459	Function	Transferrin receptor binding	IEA
GO:1990459	Function	Transferrin receptor binding	IPI	23016877

Other IDs

• MIM: 603258
• HGNC: 5960
• e!Ensembl: ENSG00000104365

Protein

• UniProt ID: O14920
• Protein name: Inhibitor of nuclear factor kappa-B kinase subunit beta (I-kappa-B-kinase beta) (IKK-B) (IKK-beta) (IkBKB) (EC 2.7.11.10) (I-kappa-B kinase 2) (IKK-2) (IKK2) (Nuclear factor NF-kappa-B inhibitor kinase beta) (NFKBIKB) (Serine/threonine protein kinase IKBK
• Protein function: Serine kinase that plays an essential role in the NF-kappa-B signaling pathway which is activated by multiple stimuli such as inflammatory cytokines, bacterial or viral products, DNA damages or other cellular stresses (PubMed:20434986, PubMed:20
• PDB: 3BRT, 3BRV, 4E3C, 4KIK, 8OMV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	15 → 297	Protein kinase domain	Domain
  PF18397	IKBKB_SDD	389 → 663	IQBAL scaffold dimerization domain	Domain
  PF12179	IKKbetaNEMObind	706 → 742	I-kappa-kinase-beta NEMO binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in heart, placenta, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis and peripheral blood.
• Sequence:

  MSWSPSLTTQTCGAWEMKERLGTGGFGNVIRWHNQETGEQIAIKQCRQELSPRNRERWCL
  EIQIMRRLTHPNVVAARDVPEGMQNLAPNDLPLLAMEYCQGGDLRKYLNQFENCCGLREG
  AILTLLSDIASALRYLHENRIIHRDLKPENIVLQQGEQRLIHKIIDLGYAKELDQGSLCT
  SFVGTLQYLAPELLEQQKYTVTVDYWSFGTLAFECITGFRPFLPNWQPVQWHSKVRQKSE
  VDIVVSEDLNGTVKFSSSLPYPNNLNSVLAERLEKWLQLMLMWHPRQRGTDPTYGPNGCF
  KALDDILNLKLVHILNMVTGTIHTYPVTEDESLQSLKARIQQDTGIPEEDQELLQEAGLA
  LIPDKPATQCISDGKLNEGHTLDMDLVFLFDNSKITYETQISPRPQPESVSCILQEPKRN
  LAFFQLRKVWGQVWHSIQTLKEDCNRLQQGQRAAMMNLLRNNSCLSKMKNSMASMSQQLK
  AKLDFFKTSIQIDLEKYSEQTEFGITSDKLLLAWREMEQAVELCGRENEVKLLVERMMAL
  QTDIVDLQRSPMGRKQGGTLDDLEEQARELYRRLREKPRDQRTEGDSQEMVRLLLQAIQS
  FEKKVRVIYTQLSKTVVCKQKALELLPKVEEVVSLMNEDEKTVVRLQEKRQKELWNLLKI
  ACSKVRGPVSGSPDSMNASRLSQPGQLMSQPSTASNSLPEPAKKSEELVAEAHNLCTLLE
  NAIQDTVREQDQSFTALDWSWLQTEEEEHSCLEQAS

• Sequence length: 756

Pathways

KEGG:

Antifolate resistance
MAPK signaling pathway
Ras signaling pathway
Chemokine signaling pathway
NF-kappa B signaling pathway
FoxO signaling pathway
mTOR signaling pathway
PI3K-Akt signaling pathway
Apoptosis
Osteoclast differentiation
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
RIG-I-like receptor signaling pathway
Cytosolic DNA-sensing pathway
C-type lectin receptor signaling pathway
IL-17 signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
T cell receptor signaling pathway
B cell receptor signaling pathway
TNF signaling pathway
Neurotrophin signaling pathway
Insulin signaling pathway
Adipocytokine signaling pathway
Type II diabetes mellitus
Insulin resistance
Non-alcoholic fatty liver disease
Alcoholic liver disease
Alzheimer disease
Epithelial cell signaling in Helicobacter pylori infection
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Yersinia infection
Chagas disease
Toxoplasmosis
Hepatitis C
Hepatitis B
Measles
Human cytomegalovirus infection
Influenza A
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Coronavirus disease - COVID-19
Pathways in cancer
MicroRNAs in cancer
Chemical carcinogenesis - reactive oxygen species
Pancreatic cancer
Prostate cancer
Chronic myeloid leukemia
Acute myeloid leukemia
Small cell lung cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis

Reactome:

Activation of NF-kappaB in B cells
ER-Phagosome pathway
NOD1/2 Signaling Pathway
TICAM1, RIP1-mediated IKK complex recruitment
RIP-mediated NFkB activation via ZBP1
Downstream TCR signaling
p75NTR recruits signalling complexes
NF-kB is activated and signals survival
FCERI mediated NF-kB activation
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
Regulation of TNFR1 signaling
TNFR1-induced NFkappaB signaling pathway
IKBKB deficiency causes SCID
IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR)
IkBA variant leads to EDA-ID
CLEC7A (Dectin-1) signaling
MAP3K8 (TPL2)-dependent MAPK1/3 activation
Interleukin-1 signaling
TRAF6 mediated NF-kB activation
NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
IRAK1 recruits IKK complex
IKK complex recruitment mediated by RIP1
IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation

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
IKBKB-related disorder	Pathogenic; Likely pathogenic	rs886041036, rs2487009371, rs2487679210	RCV003945040 RCV003416953 RCV003422471	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency 15a	Pathogenic	rs200296680, rs1563340753	RCV005042283 RCV000722132	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe combined immunodeficiency disease	Likely pathogenic	rs2130736002, rs1563361838	RCV002238602 RCV002510318	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe combined immunodeficiency due to IKK2 deficiency	Pathogenic; Likely pathogenic	rs886041036, rs1190950389, rs1205793780, rs2130681744, rs2129978037, rs2130681529, rs200296680, rs2487713743, rs2487734648, rs745492616, rs2487731363, rs2487691864, rs2487810076, rs2487739397, rs2487692827, rs1819856886, rs2487645340, rs1563340753, rs1818665697	RCV000088681 RCV001903991 RCV001908431 RCV001993177 RCV002002543 RCV001952743 RCV000144958 RCV002999163 RCV003016445 RCV003048046 RCV003583255 RCV003583790 RCV003583980 RCV003744460 RCV003743123 RCV003866269 RCV003990034 RCV003744629 RCV001230860	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Aganglionic megacolon	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY DUE TO IKBKB DEFICIENCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERBILIRUBINEMIA, NEONATAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ 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
IMMUNODEFICIENCY 15B	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSULIN RESISTANCE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	LHGDN	19050262		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	23784082, 29588349		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	33776902	Associate	★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	26603838		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	21951590		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	Pubtator	24369075	Inhibit	★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	Pubtator	30391351	Associate	★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	27106634, 37418137	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	22264792, 23592772, 26331681		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	15064395, 31182969, 31203708		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	29434332		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	16622521	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	12847684, 33087158	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	15723090, 25905622	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	15064395, 31182969, 31203708		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	15064395	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	31542718		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	18413730	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	21725879		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22562547, 23178494, 26433127, 29229606, 29455416, 29662632, 31739520		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17157792, 19221050, 20473280, 21575199, 22302350, 22562547, 22988968, 23178494, 24481412, 25083991, 25377085, 26433127, 26993770, 29374150, 33191115	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19893992	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19331697, 19893992	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	29374150	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	27682876	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	21725879		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21430781, 22327365, 25736766, 30885340		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	36799490	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23981302, 29956738	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	25637316, 26657155, 28167529, 28815582		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	25704289		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	25253847		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31107556		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	15753535	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21129206		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	39337357	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24553260, 31620100		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21129206, 23002237, 31592535, 31729423, 37157810	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21129206	Inhibit	★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	25139357		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	25216719		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30644612		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29956738, 30483769		★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	BEFREE	29332242		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	26215868		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	26215868, 34629811	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	12762338	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	29732561		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	18163512		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	27106634		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	27106634	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	30670308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	31864032, 34521919	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27106634, 29635361		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	29930535		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	28352154		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	26603838		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	25222269	Associate	★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	28306507	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	27542948, 32626910	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	31551156	Stimulate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	28167529		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	39337357	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	24123166, 28480888, 30604460		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28797077		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	24755559		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	39337357	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	23921907		★☆☆☆☆ Found in Text Mining only
Gingival Diseases	Gingival diseases	Pubtator	31743516	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23123196, 26427514, 30740911		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23123196, 26427514, 30740911		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23123196, 24553260, 26427514		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	30285578		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	34994235	Stimulate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	23455325		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	21821700, 23455325	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30644612		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	31088970		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	29695808		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia, Neonatal	Hyperbilirubinemia	CTD_human_DG	28167773		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia	Hypercholesterolemia	BEFREE	28797077		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	31671427		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	35838483	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	27659729		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive Retinopathy	Hypertensive Retinopathy	BEFREE	29499566		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	17114296	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35043517	Associate	★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	28097088		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	30391351	Associate	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	29327472		★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 15A	Immunodeficiency	CLINVAR_DG	30337470		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IMMUNODEFICIENCY 15A	Immunodeficiency	UNIPROT_DG	30337470		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IMMUNODEFICIENCY 15B	Immunodeficiency	ORPHANET_DG	24369075		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 15B	Immunodeficiency	GENOMICS_ENGLAND_DG	25216719		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 15B	Immunodeficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	30391351		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	25253847		★☆☆☆☆ Found in Text Mining only
Indirect Hyperbilirubinemia, Neonatal	Hyperbilirubinemia	CTD_human_DG	28167773		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31481750		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	30670308		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	18443205, 19798070, 22791168, 25627174, 26757982	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron Overload	Iron overload	Pubtator	25500022	Stimulate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28245468		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	29332242		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	23981302, 25016284	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	32791689	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	24755559	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	21951590		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	28584022		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	15217951		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23740840, 27213590, 29935185		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	15723090	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	32823550	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	18636537, 28139737, 32823550	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	23784082, 30885340		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	22952582, 25762184, 36309313	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26914121, 26993770	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34994235, 36799490	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	40124362	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	21987722, 25107905	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	25355930		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	18245554		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	39768951	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	23455325		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21575199, 22562547, 23178494, 26433127, 29229606, 29455416, 29662632, 31739520		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21430781, 22327365, 25736766, 30885340		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	28584022		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	25637316, 26657155, 28815582		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25238288, 27609457		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26450901, 27196761		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	28584022		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23921907, 30560335, 30661291		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	21725879		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23123196, 24811176, 25744721, 27196761, 28107677, 29229606, 29292732, 29438366, 30142927, 30483769, 30560335, 30885340		★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	30585254		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21129206		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18316610		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	29662632		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	25336190, 28107677		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35043517	Associate	★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	31802848		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	27542948	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	35421271	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	40124362	Associate	★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	27682876		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	17542984, 17692804, 19270264, 21816815, 24980832, 25107905, 25424288, 25486864	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	23527154, 25107905		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	34994235	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21036922, 21688155, 21795997, 22327365, 25096914, 25336190, 25499851, 27883176, 28107677, 28584022, 29229606, 29308904, 29455416, 30483769, 30560335, 31481662		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	30285578		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	15882260	Stimulate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31088970		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29622764		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22327365, 24550137, 31354305		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	19221050, 19798070, 34521919	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	27106634, 28797077		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	29229606		★☆☆☆☆ Found in Text Mining only
Oral Mucositis	Oral Mucositis	BEFREE	28445979		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	31107556, 31843541		★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	25637316, 26657155, 28815582		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	18408758, 20424119, 24337575, 37210768	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25238288, 27609457		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	22264792		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25238288, 35476515	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	19137061	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30818064		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	37930783	Associate	★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	27106634		★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	30391351		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26450901, 27196761		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17616684		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21036922, 28278500	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	22546858		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29956738		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	31572531		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	29499566, 30885340		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11160335, 12847684, 30605855, 31843541		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	35027554	Associate	★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	24369075		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	24369075	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency due to IKK2 deficiency	Severe combined immunodeficiency disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sezary Syndrome	Sezary Syndrome	BEFREE	18245554		★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	29434332		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	28584022		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	32767507	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	30585254		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	26718331		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	16818647, 21821700, 23455325, 26914121, 28386055, 30720059, 33227411, 35176168	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	30585254		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	21357939, 24123166, 28480888, 28621331, 30604460		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30560335, 30661291		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23921907, 30487159, 39337357	Associate	★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	BEFREE	28445979		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	29434332		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	25355930		★☆☆☆☆ Found in Text Mining only
Tendinopathy	Tendinopathy	BEFREE	30814338		★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	28077500		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	LHGDN	17693255		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	27824003, 27883176, 28545028, 32401379	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	24755559		★☆☆☆☆ Found in Text Mining only